Canonical Allele Identifier: CA360731228

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912892C>A (hg19) ; chr5:g.126577200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577200C>A , CM000667.2:g.126577200C>A	GRCh38
NC_000005.9:g.125912892C>A , CM000667.1:g.125912892C>A	GRCh37
NC_000005.8:g.125940791C>A	NCBI36
NG_008600.2:g.23191G>T
NG_008600.3:g.23191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.529G>T MANE Select	ENSP00000387123.3:p.Ala177Ser
ENST00000412186.2:c.405G>T	ENSP00000414536.2:p.Met135Ile
ENST00000413020.6:c.529G>T	ENSP00000487936.1:p.Ala177Ser
ENST00000458249.6:c.*438G>T	ENSP00000403929.1:n.*438G>T
ENST00000503281.6:c.118G>T
ENST00000509270.2:c.463G>T	ENSP00000449318.2:p.Ala155Ser
ENST00000509459.6:c.77G>T
ENST00000511266.6:n.1251G>T
ENST00000635851.1:c.527G>T
ENST00000636062.1:n.424G>T
ENST00000636225.1:c.*338G>T	ENSP00000490797.1:n.*338G>T
ENST00000636286.1:n.247G>T
ENST00000636743.1:c.409G>T	ENSP00000489725.1:p.Ala137Ser
ENST00000636808.1:c.*338G>T	ENSP00000490833.1:n.*338G>T
ENST00000636872.1:c.689G>T	ENSP00000490919.1:n.689G>T
ENST00000636879.1:c.574G>T	ENSP00000490811.1:p.Ala192Ser
ENST00000636886.1:c.328G>T	ENSP00000490371.1:p.Ala110Ser
ENST00000637206.1:c.529G>T	ENSP00000489895.1:p.Ala177Ser
ENST00000637272.1:c.529G>T	ENSP00000489686.1:p.Ala177Ser
ENST00000637292.1:c.182G>T
ENST00000637782.1:c.529G>T	ENSP00000490024.1:p.Ala177Ser
ENST00000637964.1:c.475G>T	ENSP00000490291.1:p.Ala159Ser
ENST00000638008.1:c.*471G>T	ENSP00000490400.1:n.*471G>T
ENST00000409134.7:c.529G>T	ENSP00000387123.3:p.Ala177Ser
ENST00000413020.5:c.529G>T	ENSP00000487936.1:p.Ala177Ser
ENST00000433026.5:n.56G>T
ENST00000447989.6:c.610G>T	ENSP00000414132.2:p.Ala204Ser
ENST00000458249.5:c.689G>T	ENSP00000403929.1:n.689G>T
ENST00000503281.5:c.118G>T
ENST00000509270.1:c.409G>T	ENSP00000449318.1:p.Ala137Ser
ENST00000509459.5:c.77G>T
ENST00000510111.6:c.442G>T	ENSP00000447388.1:p.Ala148Ser
ENST00000511266.5:n.360G>T
ENST00000553117.5:c.529G>T	ENSP00000448593.1:p.Ala177Ser
NM_001182.4:c.529G>T	NP_001173.2:p.Ala177Ser
NM_001201377.1:c.445G>T	NP_001188306.1:p.Ala149Ser
NM_001202404.1:c.610G>T	NP_001189333.1:p.Ala204Ser
XM_011543417.1:c.124G>T	XP_011541719.1:p.Ala42Ser
XM_011543417.2:c.124G>T	XP_011541719.1:p.Ala42Ser
NM_001182.5:c.529G>T MANE Select	NP_001173.2:p.Ala177Ser
NM_001201377.2:c.445G>T	NP_001188306.1:p.Ala149Ser
NM_001202404.2:c.529G>T	NP_001189333.2:p.Ala177Ser