Canonical Allele Identifier: CA2593949989

Gene: ASAH1

Linked Data

• dbSNP Id: rs2117009561
• gnomAD v3: 8-18057223-G-A
• gnomAD v4: 8-18057223-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057223G>A , CM000670.2:g.18057223G>A	GRCh38
NC_000008.10:g.17914732G>A , CM000670.1:g.17914732G>A	GRCh37
NC_000008.9:g.17959012G>A	NCBI36
NG_008985.1:g.32776C>T
NG_008985.2:g.32776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.*311C>T	ENSP00000371152.4:n.*311C>T
ENST00000518746.2:n.3185C>T
ENST00000520781.6:c.*311C>T	ENSP00000427751.1:n.*311C>T
ENST00000635756.1:c.912C>T
ENST00000635944.1:c.*1335C>T	ENSP00000490195.1:n.*1335C>T
ENST00000635998.1:c.*212C>T	ENSP00000490506.1:n.*212C>T
ENST00000636009.1:c.1356C>T	ENSP00000489988.1:n.1356C>T
ENST00000636033.1:c.*1335C>T	ENSP00000489617.1:n.*1335C>T
ENST00000636050.1:c.*1342C>T	ENSP00000490562.1:n.*1342C>T
ENST00000636128.1:c.*311C>T	ENSP00000489789.1:n.*311C>T
ENST00000636160.1:c.*1391C>T	ENSP00000489651.1:n.*1391C>T
ENST00000636171.1:c.*311C>T	ENSP00000489761.1:n.*311C>T
ENST00000636455.1:c.*397C>T	ENSP00000490502.1:n.*397C>T
ENST00000636494.1:c.*1279C>T	ENSP00000490388.1:n.*1279C>T
ENST00000636563.1:n.1161C>T
ENST00000636577.1:c.*311C>T	ENSP00000490027.1:n.*311C>T
ENST00000636691.1:c.*311C>T	ENSP00000490725.1:n.*311C>T
ENST00000636701.1:c.*1150C>T	ENSP00000489800.1:n.*1150C>T
ENST00000636815.1:c.1416C>T
ENST00000636920.1:c.*1335C>T	ENSP00000490437.1:n.*1335C>T
ENST00000636997.1:c.*311C>T	ENSP00000490093.1:n.*311C>T
ENST00000637013.1:c.*1867C>T	ENSP00000490596.1:n.*1867C>T
ENST00000637014.1:n.1906C>T
ENST00000637095.1:c.*1279C>T	ENSP00000490415.1:n.*1279C>T
ENST00000637244.1:c.*2017C>T	ENSP00000490188.1:n.*2017C>T
ENST00000637343.1:n.2936C>T
ENST00000637429.1:c.*1711C>T	ENSP00000490522.1:n.*1711C>T
ENST00000637484.1:c.*1461C>T	ENSP00000490837.1:n.*1461C>T
ENST00000637528.1:c.*311C>T	ENSP00000490801.1:n.*311C>T
ENST00000637609.1:n.4220C>T
ENST00000637636.1:c.*311C>T	ENSP00000490112.1:n.*311C>T
ENST00000637752.1:n.1941C>T
ENST00000637790.2:c.*311C>T MANE Select	ENSP00000490272.1:n.*311C>T
ENST00000637857.1:n.1865C>T
ENST00000637922.1:c.*311C>T	ENSP00000490071.1:n.*311C>T
ENST00000637991.1:c.*311C>T	ENSP00000489901.1:n.*311C>T
ENST00000638028.1:n.1716C>T
ENST00000638069.1:n.2320C>T
ENST00000262097.10:c.*311C>T	ENSP00000262097.6:n.*311C>T
ENST00000314146.10:c.*311C>T	ENSP00000326970.10:n.*311C>T
ENST00000381733.8:c.*311C>T	ENSP00000371152.4:n.*311C>T
ENST00000520781.5:c.*311C>T	ENSP00000427751.1:n.*311C>T
NM_001127505.1:c.*311C>T	NP_001120977.1:n.*311C>T
NM_001127505.2:c.*311C>T	NP_001120977.1:n.*311C>T
NM_004315.4:c.*311C>T	NP_004306.3:n.*311C>T
NM_004315.5:c.*311C>T	NP_004306.3:n.*311C>T
NM_177924.3:c.*311C>T	NP_808592.2:n.*311C>T
NM_177924.4:c.*311C>T	NP_808592.2:n.*311C>T
XM_005273504.2:c.*311C>T	XP_005273561.1:n.*311C>T
NM_001363743.1:c.*311C>T	NP_001350672.1:n.*311C>T
XM_005273504.3:c.*311C>T	XP_005273561.1:n.*311C>T
NM_177924.5:c.*311C>T MANE Select	NP_808592.2:n.*311C>T
NM_001127505.3:c.*311C>T	NP_001120977.1:n.*311C>T
NM_001363743.2:c.*311C>T	NP_001350672.1:n.*311C>T
NM_004315.6:c.*311C>T	NP_004306.3:n.*311C>T