Canonical Allele Identifier: CA173141471

Gene: ASAH1

Linked Data

• dbSNP Id: rs962123478
• MyVariant Identifiers: chr8:g.17918886C>T (hg19) ; chr8:g.18061377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061377C>T , CM000670.2:g.18061377C>T	GRCh38
NC_000008.10:g.17918886C>T , CM000670.1:g.17918886C>T	GRCh37
NC_000008.9:g.17963166C>T	NCBI36
NG_008985.1:g.28622G>A
NG_008985.2:g.28622G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.833G>A	ENSP00000371152.4:p.Ser278Asn
ENST00000518746.2:n.2471G>A
ENST00000520781.6:c.710G>A	ENSP00000427751.1:p.Ser237Asn
ENST00000521542.2:n.93G>A
ENST00000635756.1:c.198G>A
ENST00000635944.1:c.*621G>A	ENSP00000490195.1:n.*621G>A
ENST00000635998.1:c.785G>A	ENSP00000490506.1:p.Ser262Asn
ENST00000636009.1:c.642G>A	ENSP00000489988.1:n.642G>A
ENST00000636033.1:c.*621G>A	ENSP00000489617.1:n.*621G>A
ENST00000636050.1:c.*628G>A	ENSP00000490562.1:n.*628G>A
ENST00000636128.1:c.464G>A	ENSP00000489789.1:p.Ser155Asn
ENST00000636160.1:c.*677G>A	ENSP00000489651.1:n.*677G>A
ENST00000636171.1:c.728G>A	ENSP00000489761.1:p.Ser243Asn
ENST00000636455.1:c.833G>A	ENSP00000490502.1:p.Ser278Asn
ENST00000636494.1:c.*565G>A	ENSP00000490388.1:n.*565G>A
ENST00000636563.1:n.447G>A
ENST00000636577.1:c.725G>A	ENSP00000490027.1:p.Ser242Asn
ENST00000636691.1:c.590G>A	ENSP00000490725.1:p.Ser197Asn
ENST00000636701.1:c.*436G>A	ENSP00000489800.1:n.*436G>A
ENST00000636815.1:c.702G>A
ENST00000636920.1:c.*621G>A	ENSP00000490437.1:n.*621G>A
ENST00000636997.1:c.698G>A	ENSP00000490093.1:p.Ser233Asn
ENST00000637013.1:c.*1153G>A	ENSP00000490596.1:n.*1153G>A
ENST00000637014.1:n.1192G>A
ENST00000637095.1:c.*565G>A	ENSP00000490415.1:n.*565G>A
ENST00000637244.1:c.*1303G>A	ENSP00000490188.1:n.*1303G>A
ENST00000637343.1:n.2222G>A
ENST00000637429.1:c.*997G>A	ENSP00000490522.1:n.*997G>A
ENST00000637484.1:c.*747G>A	ENSP00000490837.1:n.*747G>A
ENST00000637528.1:c.722G>A	ENSP00000490801.1:p.Ser241Asn
ENST00000637609.1:n.3506G>A
ENST00000637636.1:c.779G>A	ENSP00000490112.1:p.Ser260Asn
ENST00000637790.2:c.785G>A MANE Select	ENSP00000490272.1:p.Ser262Asn
ENST00000637857.1:n.1151G>A
ENST00000637922.1:c.590G>A	ENSP00000490071.1:p.Ser197Asn
ENST00000637991.1:c.758G>A	ENSP00000489901.1:p.Ser253Asn
ENST00000638028.1:n.1002G>A
ENST00000638069.1:n.1606G>A
ENST00000262097.10:c.785G>A	ENSP00000262097.6:p.Ser262Asn
ENST00000314146.10:c.767G>A	ENSP00000326970.10:p.Ser256Asn
ENST00000381733.8:c.833G>A	ENSP00000371152.4:p.Ser278Asn
ENST00000519468.5:n.614G>A
ENST00000520781.5:c.710G>A	ENSP00000427751.1:p.Ser237Asn
ENST00000521542.1:n.498G>A
NM_001127505.1:c.767G>A	NP_001120977.1:p.Ser256Asn
NM_001127505.2:c.767G>A	NP_001120977.1:p.Ser256Asn
NM_004315.4:c.833G>A	NP_004306.3:p.Ser278Asn
NM_004315.5:c.833G>A	NP_004306.3:p.Ser278Asn
NM_177924.3:c.785G>A	NP_808592.2:p.Ser262Asn
NM_177924.4:c.785G>A	NP_808592.2:p.Ser262Asn
XM_005273504.2:c.719G>A	XP_005273561.1:p.Ser240Asn
NM_001363743.1:c.590G>A	NP_001350672.1:p.Ser197Asn
XM_005273504.3:c.719G>A	XP_005273561.1:p.Ser240Asn
NM_177924.5:c.785G>A MANE Select	NP_808592.2:p.Ser262Asn
NM_001127505.3:c.767G>A	NP_001120977.1:p.Ser256Asn
NM_001363743.2:c.590G>A	NP_001350672.1:p.Ser197Asn
NM_004315.6:c.833G>A	NP_004306.3:p.Ser278Asn