Canonical Allele Identifier: CA360717878

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880700T>A (hg19) ; chr5:g.126545008T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545008T>A , CM000667.2:g.126545008T>A	GRCh38
NC_000005.9:g.125880700T>A , CM000667.1:g.125880700T>A	GRCh37
NC_000005.8:g.125908599T>A	NCBI36
NG_008600.2:g.55383A>T
NG_008600.3:g.55383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1577A>T MANE Select	ENSP00000387123.3:p.Tyr526Phe
ENST00000458249.6:c.*1486A>T	ENSP00000403929.1:n.*1486A>T
ENST00000485852.7:n.324A>T
ENST00000497231.7:n.2004A>T
ENST00000635851.1:c.1563+1316A>T
ENST00000636286.1:n.1342A>T
ENST00000636482.1:n.1111A>T
ENST00000636743.1:c.1457A>T	ENSP00000489725.1:p.Tyr486Phe
ENST00000636808.1:c.*1386A>T	ENSP00000490833.1:n.*1386A>T
ENST00000636872.1:c.1737A>T	ENSP00000490919.1:n.1737A>T
ENST00000636879.1:c.1622A>T	ENSP00000490811.1:p.Tyr541Phe
ENST00000636886.1:c.1376A>T	ENSP00000490371.1:p.Tyr459Phe
ENST00000637206.1:c.1397A>T	ENSP00000489895.1:p.Tyr466Phe
ENST00000637272.1:c.1568A>T	ENSP00000489686.1:p.Tyr523Phe
ENST00000637292.1:c.1033A>T
ENST00000637782.1:c.1565+1316A>T	ENSP00000490024.1:n.1565+1316A>T
ENST00000638008.1:c.*1421A>T	ENSP00000490400.1:n.*1421A>T
ENST00000638010.1:n.1523A>T
ENST00000409134.7:c.1577A>T	ENSP00000387123.3:p.Tyr526Phe
ENST00000447989.6:c.1466A>T	ENSP00000414132.2:p.Tyr489Phe
ENST00000485852.6:n.324A>T
ENST00000497231.6:n.1787A>T
ENST00000553117.5:c.1385A>T	ENSP00000448593.1:p.Tyr462Phe
NM_001182.4:c.1577A>T	NP_001173.2:p.Tyr526Phe
NM_001201377.1:c.1493A>T	NP_001188306.1:p.Tyr498Phe
NM_001202404.1:c.1466A>T	NP_001189333.1:p.Tyr489Phe
XM_011543417.1:c.1172A>T	XP_011541719.1:p.Tyr391Phe
XM_011543417.2:c.1172A>T	XP_011541719.1:p.Tyr391Phe
NM_001182.5:c.1577A>T MANE Select	NP_001173.2:p.Tyr526Phe
NM_001201377.2:c.1493A>T	NP_001188306.1:p.Tyr498Phe
NM_001202404.2:c.1385A>T	NP_001189333.2:p.Tyr462Phe