Canonical Allele Identifier: CA1081221646

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1749781171
• gnomAD v3: 5-126546231-A-G
• gnomAD v4: 5-126546231-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546231A>G , CM000667.2:g.126546231A>G	GRCh38
NC_000005.9:g.125881923A>G , CM000667.1:g.125881923A>G	GRCh37
NC_000005.8:g.125909822A>G	NCBI36
NG_008600.2:g.54160T>C
NG_008600.3:g.54160T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1565+93T>C MANE Select	ENSP00000387123.3:n.1565+93T>C
ENST00000458249.6:c.*1474+93T>C	ENSP00000403929.1:n.*1474+93T>C
ENST00000485852.7:n.312+93T>C
ENST00000497231.7:n.1992+93T>C
ENST00000635851.1:c.1563+93T>C
ENST00000636286.1:n.1330+93T>C
ENST00000636482.1:n.1099+93T>C
ENST00000636743.1:c.1445+93T>C	ENSP00000489725.1:n.1445+93T>C
ENST00000636808.1:c.*1374+93T>C	ENSP00000490833.1:n.*1374+93T>C
ENST00000636872.1:c.1725+93T>C	ENSP00000490919.1:n.1725+93T>C
ENST00000636879.1:c.1610+93T>C	ENSP00000490811.1:n.1610+93T>C
ENST00000636886.1:c.1364+93T>C	ENSP00000490371.1:n.1364+93T>C
ENST00000637206.1:c.1385+93T>C	ENSP00000489895.1:n.1385+93T>C
ENST00000637272.1:c.1556+93T>C	ENSP00000489686.1:n.1556+93T>C
ENST00000637292.1:c.1021+93T>C
ENST00000637782.1:c.1565+93T>C	ENSP00000490024.1:n.1565+93T>C
ENST00000638008.1:c.*1409+93T>C	ENSP00000490400.1:n.*1409+93T>C
ENST00000638010.1:n.1511+93T>C
ENST00000409134.7:c.1565+93T>C	ENSP00000387123.3:n.1565+93T>C
ENST00000447989.6:c.1454+93T>C	ENSP00000414132.2:n.1454+93T>C
ENST00000485852.6:n.312+93T>C
ENST00000497231.6:n.1775+93T>C
ENST00000553117.5:c.1373+93T>C	ENSP00000448593.1:n.1373+93T>C
NM_001182.4:c.1565+93T>C	NP_001173.2:n.1565+93T>C
NM_001201377.1:c.1481+93T>C	NP_001188306.1:n.1481+93T>C
NM_001202404.1:c.1454+93T>C	NP_001189333.1:n.1454+93T>C
XM_011543417.1:c.1160+93T>C	XP_011541719.1:n.1160+93T>C
XM_011543417.2:c.1160+93T>C	XP_011541719.1:n.1160+93T>C
NM_001182.5:c.1565+93T>C MANE Select	NP_001173.2:n.1565+93T>C
NM_001201377.2:c.1481+93T>C	NP_001188306.1:n.1481+93T>C
NM_001202404.2:c.1373+93T>C	NP_001189333.2:n.1373+93T>C