Canonical Allele Identifier: CA360717941

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545013-G-C
• MyVariant Identifiers: chr5:g.125880705G>C (hg19) ; chr5:g.126545013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545013G>C , CM000667.2:g.126545013G>C	GRCh38
NC_000005.9:g.125880705G>C , CM000667.1:g.125880705G>C	GRCh37
NC_000005.8:g.125908604G>C	NCBI36
NG_008600.2:g.55378C>G
NG_008600.3:g.55378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1572C>G MANE Select	ENSP00000387123.3:p.Ile524Met
ENST00000458249.6:c.*1481C>G	ENSP00000403929.1:n.*1481C>G
ENST00000485852.7:n.319C>G
ENST00000497231.7:n.1999C>G
ENST00000635851.1:c.1563+1311C>G
ENST00000636286.1:n.1337C>G
ENST00000636482.1:n.1106C>G
ENST00000636743.1:c.1452C>G	ENSP00000489725.1:p.Ile484Met
ENST00000636808.1:c.*1381C>G	ENSP00000490833.1:n.*1381C>G
ENST00000636872.1:c.1732C>G	ENSP00000490919.1:n.1732C>G
ENST00000636879.1:c.1617C>G	ENSP00000490811.1:p.Ile539Met
ENST00000636886.1:c.1371C>G	ENSP00000490371.1:p.Ile457Met
ENST00000637206.1:c.1392C>G	ENSP00000489895.1:p.Ile464Met
ENST00000637272.1:c.1563C>G	ENSP00000489686.1:p.Ile521Met
ENST00000637292.1:c.1028C>G
ENST00000637782.1:c.1565+1311C>G	ENSP00000490024.1:n.1565+1311C>G
ENST00000638008.1:c.*1416C>G	ENSP00000490400.1:n.*1416C>G
ENST00000638010.1:n.1518C>G
ENST00000409134.7:c.1572C>G	ENSP00000387123.3:p.Ile524Met
ENST00000447989.6:c.1461C>G	ENSP00000414132.2:p.Ile487Met
ENST00000485852.6:n.319C>G
ENST00000497231.6:n.1782C>G
ENST00000553117.5:c.1380C>G	ENSP00000448593.1:p.Ile460Met
NM_001182.4:c.1572C>G	NP_001173.2:p.Ile524Met
NM_001201377.1:c.1488C>G	NP_001188306.1:p.Ile496Met
NM_001202404.1:c.1461C>G	NP_001189333.1:p.Ile487Met
XM_011543417.1:c.1167C>G	XP_011541719.1:p.Ile389Met
XM_011543417.2:c.1167C>G	XP_011541719.1:p.Ile389Met
NM_001182.5:c.1572C>G MANE Select	NP_001173.2:p.Ile524Met
NM_001201377.2:c.1488C>G	NP_001188306.1:p.Ile496Met
NM_001202404.2:c.1380C>G	NP_001189333.2:p.Ile460Met