Canonical Allele Identifier: CA360718763

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882016C>A (hg19) ; chr5:g.126546324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546324C>A , CM000667.2:g.126546324C>A	GRCh38
NC_000005.9:g.125882016C>A , CM000667.1:g.125882016C>A	GRCh37
NC_000005.8:g.125909915C>A	NCBI36
NG_008600.2:g.54067G>T
NG_008600.3:g.54067G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1565G>T MANE Select	ENSP00000387123.3:p.Cys522Phe
ENST00000458249.6:c.*1474G>T	ENSP00000403929.1:n.*1474G>T
ENST00000485852.7:n.312G>T
ENST00000497231.7:n.1992G>T
ENST00000635851.1:c.1563G>T
ENST00000636286.1:n.1330G>T
ENST00000636482.1:n.1099G>T
ENST00000636743.1:c.1445G>T	ENSP00000489725.1:p.Cys482Phe
ENST00000636808.1:c.*1374G>T	ENSP00000490833.1:n.*1374G>T
ENST00000636872.1:c.1725G>T	ENSP00000490919.1:n.1725G>T
ENST00000636879.1:c.1610G>T	ENSP00000490811.1:p.Cys537Phe
ENST00000636886.1:c.1364G>T	ENSP00000490371.1:p.Cys455Phe
ENST00000637206.1:c.1385G>T	ENSP00000489895.1:p.Cys462Phe
ENST00000637272.1:c.1556G>T	ENSP00000489686.1:p.Cys519Phe
ENST00000637292.1:c.1021G>T
ENST00000637782.1:c.1565G>T	ENSP00000490024.1:p.Ter522Leu
ENST00000638008.1:c.*1409G>T	ENSP00000490400.1:n.*1409G>T
ENST00000638010.1:n.1511G>T
ENST00000409134.7:c.1565G>T	ENSP00000387123.3:p.Cys522Phe
ENST00000447989.6:c.1454G>T	ENSP00000414132.2:p.Cys485Phe
ENST00000485852.6:n.312G>T
ENST00000497231.6:n.1775G>T
ENST00000553117.5:c.1373G>T	ENSP00000448593.1:p.Cys458Phe
NM_001182.4:c.1565G>T	NP_001173.2:p.Cys522Phe
NM_001201377.1:c.1481G>T	NP_001188306.1:p.Cys494Phe
NM_001202404.1:c.1454G>T	NP_001189333.1:p.Cys485Phe
XM_011543417.1:c.1160G>T	XP_011541719.1:p.Cys387Phe
XM_011543417.2:c.1160G>T	XP_011541719.1:p.Cys387Phe
NM_001182.5:c.1565G>T MANE Select	NP_001173.2:p.Cys522Phe
NM_001201377.2:c.1481G>T	NP_001188306.1:p.Cys494Phe
NM_001202404.2:c.1373G>T	NP_001189333.2:p.Cys458Phe