Canonical Allele Identifier: CA360723031

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126552063-G-C
• MyVariant Identifiers: chr5:g.125887755G>C (hg19) ; chr5:g.126552063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552063G>C , CM000667.2:g.126552063G>C	GRCh38
NC_000005.9:g.125887755G>C , CM000667.1:g.125887755G>C	GRCh37
NC_000005.8:g.125915654G>C	NCBI36
NG_008600.2:g.48328C>G
NG_008600.3:g.48328C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1275C>G MANE Select	ENSP00000387123.3:p.His425Gln
ENST00000458249.6:c.*1184C>G	ENSP00000403929.1:n.*1184C>G
ENST00000497231.7:n.1702C>G
ENST00000503281.6:c.864C>G
ENST00000635851.1:c.1273C>G
ENST00000636062.1:n.1170C>G
ENST00000636225.1:c.*1219C>G	ENSP00000490797.1:n.*1219C>G
ENST00000636286.1:n.993C>G
ENST00000636482.1:n.762C>G
ENST00000636743.1:c.1155C>G	ENSP00000489725.1:p.His385Gln
ENST00000636808.1:c.*1084C>G	ENSP00000490833.1:n.*1084C>G
ENST00000636872.1:c.1435C>G	ENSP00000490919.1:n.1435C>G
ENST00000636879.1:c.1320C>G	ENSP00000490811.1:p.His440Gln
ENST00000636886.1:c.1074C>G	ENSP00000490371.1:p.His358Gln
ENST00000637206.1:c.1095C>G	ENSP00000489895.1:p.His365Gln
ENST00000637272.1:c.1266C>G	ENSP00000489686.1:p.His422Gln
ENST00000637292.1:c.774-1770C>G
ENST00000637782.1:c.1275C>G	ENSP00000490024.1:p.His425Gln
ENST00000638008.1:c.*1119C>G	ENSP00000490400.1:n.*1119C>G
ENST00000638010.1:n.1221C>G
ENST00000409134.7:c.1275C>G	ENSP00000387123.3:p.His425Gln
ENST00000447989.6:c.1164C>G	ENSP00000414132.2:p.His388Gln
ENST00000476328.1:n.40C>G
ENST00000497231.6:n.1485C>G
ENST00000503281.5:c.864C>G
ENST00000553117.5:c.1083C>G	ENSP00000448593.1:p.His361Gln
NM_001182.4:c.1275C>G	NP_001173.2:p.His425Gln
NM_001201377.1:c.1191C>G	NP_001188306.1:p.His397Gln
NM_001202404.1:c.1164C>G	NP_001189333.1:p.His388Gln
XM_011543417.1:c.870C>G	XP_011541719.1:p.His290Gln
XM_011543417.2:c.870C>G	XP_011541719.1:p.His290Gln
NM_001182.5:c.1275C>G MANE Select	NP_001173.2:p.His425Gln
NM_001201377.2:c.1191C>G	NP_001188306.1:p.His397Gln
NM_001202404.2:c.1083C>G	NP_001189333.2:p.His361Gln