Canonical Allele Identifier: CA803452797

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1362874212
• gnomAD v3: 5-126546250-G-A
• gnomAD v4: 5-126546250-G-A
• MyVariant Identifiers: chr5:g.125881942G>A (hg19) ; chr5:g.126546250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546250G>A , CM000667.2:g.126546250G>A	GRCh38
NC_000005.9:g.125881942G>A , CM000667.1:g.125881942G>A	GRCh37
NC_000005.8:g.125909841G>A	NCBI36
NG_008600.2:g.54141C>T
NG_008600.3:g.54141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1565+74C>T MANE Select	ENSP00000387123.3:n.1565+74C>T
ENST00000458249.6:c.*1474+74C>T	ENSP00000403929.1:n.*1474+74C>T
ENST00000485852.7:n.312+74C>T
ENST00000497231.7:n.1992+74C>T
ENST00000635851.1:c.1563+74C>T
ENST00000636286.1:n.1330+74C>T
ENST00000636482.1:n.1099+74C>T
ENST00000636743.1:c.1445+74C>T	ENSP00000489725.1:n.1445+74C>T
ENST00000636808.1:c.*1374+74C>T	ENSP00000490833.1:n.*1374+74C>T
ENST00000636872.1:c.1725+74C>T	ENSP00000490919.1:n.1725+74C>T
ENST00000636879.1:c.1610+74C>T	ENSP00000490811.1:n.1610+74C>T
ENST00000636886.1:c.1364+74C>T	ENSP00000490371.1:n.1364+74C>T
ENST00000637206.1:c.1385+74C>T	ENSP00000489895.1:n.1385+74C>T
ENST00000637272.1:c.1556+74C>T	ENSP00000489686.1:n.1556+74C>T
ENST00000637292.1:c.1021+74C>T
ENST00000637782.1:c.1565+74C>T	ENSP00000490024.1:n.1565+74C>T
ENST00000638008.1:c.*1409+74C>T	ENSP00000490400.1:n.*1409+74C>T
ENST00000638010.1:n.1511+74C>T
ENST00000409134.7:c.1565+74C>T	ENSP00000387123.3:n.1565+74C>T
ENST00000447989.6:c.1454+74C>T	ENSP00000414132.2:n.1454+74C>T
ENST00000485852.6:n.312+74C>T
ENST00000497231.6:n.1775+74C>T
ENST00000553117.5:c.1373+74C>T	ENSP00000448593.1:n.1373+74C>T
NM_001182.4:c.1565+74C>T	NP_001173.2:n.1565+74C>T
NM_001201377.1:c.1481+74C>T	NP_001188306.1:n.1481+74C>T
NM_001202404.1:c.1454+74C>T	NP_001189333.1:n.1454+74C>T
XM_011543417.1:c.1160+74C>T	XP_011541719.1:n.1160+74C>T
XM_011543417.2:c.1160+74C>T	XP_011541719.1:n.1160+74C>T
NM_001182.5:c.1565+74C>T MANE Select	NP_001173.2:n.1565+74C>T
NM_001201377.2:c.1481+74C>T	NP_001188306.1:n.1481+74C>T
NM_001202404.2:c.1373+74C>T	NP_001189333.2:n.1373+74C>T