Canonical Allele Identifier: CA360717533

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880664A>T (hg19) ; chr5:g.126544972A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544972A>T , CM000667.2:g.126544972A>T	GRCh38
NC_000005.9:g.125880664A>T , CM000667.1:g.125880664A>T	GRCh37
NC_000005.8:g.125908563A>T	NCBI36
NG_008600.2:g.55419T>A
NG_008600.3:g.55419T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1613T>A MANE Select	ENSP00000387123.3:p.Phe538Tyr
ENST00000458249.6:c.*1522T>A	ENSP00000403929.1:n.*1522T>A
ENST00000485852.7:n.360T>A
ENST00000497231.7:n.2040T>A
ENST00000635851.1:c.1563+1352T>A
ENST00000636286.1:n.1378T>A
ENST00000636482.1:n.1147T>A
ENST00000636743.1:c.1493T>A	ENSP00000489725.1:p.Phe498Tyr
ENST00000636808.1:c.*1422T>A	ENSP00000490833.1:n.*1422T>A
ENST00000636872.1:c.1773T>A	ENSP00000490919.1:n.1773T>A
ENST00000636879.1:c.1658T>A	ENSP00000490811.1:p.Phe553Tyr
ENST00000636886.1:c.1412T>A	ENSP00000490371.1:p.Phe471Tyr
ENST00000637206.1:c.1433T>A	ENSP00000489895.1:p.Phe478Tyr
ENST00000637272.1:c.1604T>A	ENSP00000489686.1:p.Phe535Tyr
ENST00000637292.1:c.1069T>A
ENST00000637782.1:c.1565+1352T>A	ENSP00000490024.1:n.1565+1352T>A
ENST00000638008.1:c.*1457T>A	ENSP00000490400.1:n.*1457T>A
ENST00000638010.1:n.1559T>A
ENST00000409134.7:c.1613T>A	ENSP00000387123.3:p.Phe538Tyr
ENST00000447989.6:c.1502T>A	ENSP00000414132.2:p.Phe501Tyr
ENST00000485852.6:n.360T>A
ENST00000497231.6:n.1823T>A
ENST00000553117.5:c.1421T>A	ENSP00000448593.1:p.Phe474Tyr
NM_001182.4:c.1613T>A	NP_001173.2:p.Phe538Tyr
NM_001201377.1:c.1529T>A	NP_001188306.1:p.Phe510Tyr
NM_001202404.1:c.1502T>A	NP_001189333.1:p.Phe501Tyr
XM_011543417.1:c.1208T>A	XP_011541719.1:p.Phe403Tyr
XM_011543417.2:c.1208T>A	XP_011541719.1:p.Phe403Tyr
NM_001182.5:c.1613T>A MANE Select	NP_001173.2:p.Phe538Tyr
NM_001201377.2:c.1529T>A	NP_001188306.1:p.Phe510Tyr
NM_001202404.2:c.1421T>A	NP_001189333.2:p.Phe474Tyr