Canonical Allele Identifier: CA360724774

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555963T>G , CM000667.2:g.126555963T>G	GRCh38
NC_000005.9:g.125891655T>G , CM000667.1:g.125891655T>G	GRCh37
NC_000005.8:g.125919554T>G	NCBI36
NG_008600.2:g.44428A>C
NG_008600.3:g.44428A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1061A>C MANE Select	NP_001173.2:p.Tyr354Ser
ENST00000409134.8:c.1061A>C MANE Select	ENSP00000387123.3:p.Tyr354Ser
NM_001182.4:c.1061A>C	NP_001173.2:p.Tyr354Ser
NM_001201377.1:c.977A>C	NP_001188306.1:p.Tyr326Ser
NM_001201377.2:c.977A>C	NP_001188306.1:p.Tyr326Ser
NM_001202404.1:c.1089+3277A>C	NP_001189333.1:n.1089+3277A>C
NM_001202404.2:c.1008+3277A>C	NP_001189333.2:n.1008+3277A>C
ENST00000409134.7:c.1061A>C	ENSP00000387123.3:p.Tyr354Ser
ENST00000447989.6:c.1089+3277A>C	ENSP00000414132.2:n.1089+3277A>C
ENST00000458249.6:c.*970A>C	ENSP00000403929.1:n.*970A>C
ENST00000497231.6:n.1271A>C
ENST00000497231.7:n.1488A>C
ENST00000503281.5:c.650A>C
ENST00000503281.6:c.650A>C
ENST00000553117.5:c.1008+3277A>C	ENSP00000448593.1:n.1008+3277A>C
ENST00000635851.1:c.1059A>C
ENST00000636062.1:n.956A>C
ENST00000636225.1:c.*1005A>C	ENSP00000490797.1:n.*1005A>C
ENST00000636286.1:n.779A>C
ENST00000636482.1:n.548A>C
ENST00000636743.1:c.941A>C	ENSP00000489725.1:p.Tyr314Ser
ENST00000636808.1:c.*870A>C	ENSP00000490833.1:n.*870A>C
ENST00000636872.1:c.1221A>C	ENSP00000490919.1:n.1221A>C
ENST00000636879.1:c.1106A>C	ENSP00000490811.1:p.Tyr369Ser
ENST00000636886.1:c.860A>C	ENSP00000490371.1:p.Tyr287Ser
ENST00000637206.1:c.914-1570A>C	ENSP00000489895.1:n.914-1570A>C
ENST00000637272.1:c.1052A>C	ENSP00000489686.1:p.Tyr351Ser
ENST00000637292.1:c.634A>C
ENST00000637782.1:c.1061A>C	ENSP00000490024.1:p.Tyr354Ser
ENST00000637964.1:c.1007A>C	ENSP00000490291.1:p.Tyr336Ser
ENST00000638008.1:c.*905A>C	ENSP00000490400.1:n.*905A>C
XM_011543417.1:c.656A>C	XP_011541719.1:p.Tyr219Ser
XM_011543417.2:c.656A>C	XP_011541719.1:p.Tyr219Ser