Canonical Allele Identifier: CA126882182

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs61757684
• gnomAD v3: 5-126545018-T-A
• gnomAD v4: 5-126545018-T-A
• MyVariant Identifiers: chr5:g.125880710T>A (hg19) ; chr5:g.126545018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545018T>A , CM000667.2:g.126545018T>A	GRCh38
NC_000005.9:g.125880710T>A , CM000667.1:g.125880710T>A	GRCh37
NC_000005.8:g.125908609T>A	NCBI36
NG_008600.2:g.55373A>T
NG_008600.3:g.55373A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1567A>T MANE Select	ENSP00000387123.3:p.Thr523Ser
ENST00000458249.6:c.*1476A>T	ENSP00000403929.1:n.*1476A>T
ENST00000485852.7:n.314A>T
ENST00000497231.7:n.1994A>T
ENST00000635851.1:c.1563+1306A>T
ENST00000636286.1:n.1332A>T
ENST00000636482.1:n.1101A>T
ENST00000636743.1:c.1447A>T	ENSP00000489725.1:p.Thr483Ser
ENST00000636808.1:c.*1376A>T	ENSP00000490833.1:n.*1376A>T
ENST00000636872.1:c.1727A>T	ENSP00000490919.1:n.1727A>T
ENST00000636879.1:c.1612A>T	ENSP00000490811.1:p.Thr538Ser
ENST00000636886.1:c.1366A>T	ENSP00000490371.1:p.Thr456Ser
ENST00000637206.1:c.1387A>T	ENSP00000489895.1:p.Thr463Ser
ENST00000637272.1:c.1558A>T	ENSP00000489686.1:p.Thr520Ser
ENST00000637292.1:c.1023A>T
ENST00000637782.1:c.1565+1306A>T	ENSP00000490024.1:n.1565+1306A>T
ENST00000638008.1:c.*1411A>T	ENSP00000490400.1:n.*1411A>T
ENST00000638010.1:n.1513A>T
ENST00000409134.7:c.1567A>T	ENSP00000387123.3:p.Thr523Ser
ENST00000447989.6:c.1456A>T	ENSP00000414132.2:p.Thr486Ser
ENST00000485852.6:n.314A>T
ENST00000497231.6:n.1777A>T
ENST00000553117.5:c.1375A>T	ENSP00000448593.1:p.Thr459Ser
NM_001182.4:c.1567A>T	NP_001173.2:p.Thr523Ser
NM_001201377.1:c.1483A>T	NP_001188306.1:p.Thr495Ser
NM_001202404.1:c.1456A>T	NP_001189333.1:p.Thr486Ser
XM_011543417.1:c.1162A>T	XP_011541719.1:p.Thr388Ser
XM_011543417.2:c.1162A>T	XP_011541719.1:p.Thr388Ser
NM_001182.5:c.1567A>T MANE Select	NP_001173.2:p.Thr523Ser
NM_001201377.2:c.1483A>T	NP_001188306.1:p.Thr495Ser
NM_001202404.2:c.1375A>T	NP_001189333.2:p.Thr459Ser