Canonical Allele Identifier: CA370429467

Gene: ASAH1

Linked Data

• COSMIC: COSM5874296 ; COSM5874297 ; COSM5874298
• MyVariant Identifiers: chr8:g.17918954C>T (hg19) ; chr8:g.18061445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061445C>T , CM000670.2:g.18061445C>T	GRCh38
NC_000008.10:g.17918954C>T , CM000670.1:g.17918954C>T	GRCh37
NC_000008.9:g.17963234C>T	NCBI36
NG_008985.1:g.28554G>A
NG_008985.2:g.28554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.765G>A	ENSP00000371152.4:p.Trp255Ter
ENST00000517409.2:n.685G>A
ENST00000518746.2:n.2403G>A
ENST00000519545.6:n.734G>A
ENST00000520781.6:c.642G>A	ENSP00000427751.1:p.Trp214Ter
ENST00000521542.2:n.25G>A
ENST00000635756.1:c.130G>A
ENST00000635944.1:c.*553G>A	ENSP00000490195.1:n.*553G>A
ENST00000635998.1:c.717G>A	ENSP00000490506.1:p.Trp239Ter
ENST00000636009.1:c.574G>A	ENSP00000489988.1:n.574G>A
ENST00000636033.1:c.*553G>A	ENSP00000489617.1:n.*553G>A
ENST00000636050.1:c.*560G>A	ENSP00000490562.1:n.*560G>A
ENST00000636128.1:c.396G>A	ENSP00000489789.1:p.Trp132Ter
ENST00000636160.1:c.*609G>A	ENSP00000489651.1:n.*609G>A
ENST00000636171.1:c.660G>A	ENSP00000489761.1:p.Trp220Ter
ENST00000636455.1:c.765G>A	ENSP00000490502.1:p.Trp255Ter
ENST00000636494.1:c.*497G>A	ENSP00000490388.1:n.*497G>A
ENST00000636563.1:n.379G>A
ENST00000636577.1:c.657G>A	ENSP00000490027.1:p.Trp219Ter
ENST00000636691.1:c.522G>A	ENSP00000490725.1:p.Trp174Ter
ENST00000636701.1:c.*368G>A	ENSP00000489800.1:n.*368G>A
ENST00000636815.1:c.634G>A
ENST00000636920.1:c.*553G>A	ENSP00000490437.1:n.*553G>A
ENST00000636997.1:c.630G>A	ENSP00000490093.1:p.Trp210Ter
ENST00000637013.1:c.*1085G>A	ENSP00000490596.1:n.*1085G>A
ENST00000637014.1:n.1124G>A
ENST00000637095.1:c.*497G>A	ENSP00000490415.1:n.*497G>A
ENST00000637244.1:c.*1235G>A	ENSP00000490188.1:n.*1235G>A
ENST00000637343.1:n.2154G>A
ENST00000637429.1:c.*929G>A	ENSP00000490522.1:n.*929G>A
ENST00000637484.1:c.*679G>A	ENSP00000490837.1:n.*679G>A
ENST00000637528.1:c.654G>A	ENSP00000490801.1:p.Trp218Ter
ENST00000637609.1:n.3438G>A
ENST00000637636.1:c.711G>A	ENSP00000490112.1:p.Trp237Ter
ENST00000637790.2:c.717G>A MANE Select	ENSP00000490272.1:p.Trp239Ter
ENST00000637857.1:n.1083G>A
ENST00000637922.1:c.522G>A	ENSP00000490071.1:p.Trp174Ter
ENST00000637991.1:c.690G>A	ENSP00000489901.1:p.Trp230Ter
ENST00000638028.1:n.934G>A
ENST00000638069.1:n.1538G>A
ENST00000262097.10:c.717G>A	ENSP00000262097.6:p.Trp239Ter
ENST00000314146.10:c.699G>A	ENSP00000326970.10:p.Trp233Ter
ENST00000381733.8:c.765G>A	ENSP00000371152.4:p.Trp255Ter
ENST00000518746.1:n.534G>A
ENST00000519468.5:n.546G>A
ENST00000520781.5:c.642G>A	ENSP00000427751.1:p.Trp214Ter
ENST00000521542.1:n.430G>A
NM_001127505.1:c.699G>A	NP_001120977.1:p.Trp233Ter
NM_001127505.2:c.699G>A	NP_001120977.1:p.Trp233Ter
NM_004315.4:c.765G>A	NP_004306.3:p.Trp255Ter
NM_004315.5:c.765G>A	NP_004306.3:p.Trp255Ter
NM_177924.3:c.717G>A	NP_808592.2:p.Trp239Ter
NM_177924.4:c.717G>A	NP_808592.2:p.Trp239Ter
XM_005273504.2:c.651G>A	XP_005273561.1:p.Trp217Ter
NM_001363743.1:c.522G>A	NP_001350672.1:p.Trp174Ter
XM_005273504.3:c.651G>A	XP_005273561.1:p.Trp217Ter
NM_177924.5:c.717G>A MANE Select	NP_808592.2:p.Trp239Ter
NM_001127505.3:c.699G>A	NP_001120977.1:p.Trp233Ter
NM_001363743.2:c.522G>A	NP_001350672.1:p.Trp174Ter
NM_004315.6:c.765G>A	NP_004306.3:p.Trp255Ter