Canonical Allele Identifier: CA360717727

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1220594348
• gnomAD v3: 5-126544993-G-C
• gnomAD v4: 5-126544993-G-C
• MyVariant Identifiers: chr5:g.125880685G>C (hg19) ; chr5:g.126544993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544993G>C , CM000667.2:g.126544993G>C	GRCh38
NC_000005.9:g.125880685G>C , CM000667.1:g.125880685G>C	GRCh37
NC_000005.8:g.125908584G>C	NCBI36
NG_008600.2:g.55398C>G
NG_008600.3:g.55398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1592C>G MANE Select	ENSP00000387123.3:p.Pro531Arg
ENST00000458249.6:c.*1501C>G	ENSP00000403929.1:n.*1501C>G
ENST00000485852.7:n.339C>G
ENST00000497231.7:n.2019C>G
ENST00000635851.1:c.1563+1331C>G
ENST00000636286.1:n.1357C>G
ENST00000636482.1:n.1126C>G
ENST00000636743.1:c.1472C>G	ENSP00000489725.1:p.Pro491Arg
ENST00000636808.1:c.*1401C>G	ENSP00000490833.1:n.*1401C>G
ENST00000636872.1:c.1752C>G	ENSP00000490919.1:n.1752C>G
ENST00000636879.1:c.1637C>G	ENSP00000490811.1:p.Pro546Arg
ENST00000636886.1:c.1391C>G	ENSP00000490371.1:p.Pro464Arg
ENST00000637206.1:c.1412C>G	ENSP00000489895.1:p.Pro471Arg
ENST00000637272.1:c.1583C>G	ENSP00000489686.1:p.Pro528Arg
ENST00000637292.1:c.1048C>G
ENST00000637782.1:c.1565+1331C>G	ENSP00000490024.1:n.1565+1331C>G
ENST00000638008.1:c.*1436C>G	ENSP00000490400.1:n.*1436C>G
ENST00000638010.1:n.1538C>G
ENST00000409134.7:c.1592C>G	ENSP00000387123.3:p.Pro531Arg
ENST00000447989.6:c.1481C>G	ENSP00000414132.2:p.Pro494Arg
ENST00000485852.6:n.339C>G
ENST00000497231.6:n.1802C>G
ENST00000553117.5:c.1400C>G	ENSP00000448593.1:p.Pro467Arg
NM_001182.4:c.1592C>G	NP_001173.2:p.Pro531Arg
NM_001201377.1:c.1508C>G	NP_001188306.1:p.Pro503Arg
NM_001202404.1:c.1481C>G	NP_001189333.1:p.Pro494Arg
XM_011543417.1:c.1187C>G	XP_011541719.1:p.Pro396Arg
XM_011543417.2:c.1187C>G	XP_011541719.1:p.Pro396Arg
NM_001182.5:c.1592C>G MANE Select	NP_001173.2:p.Pro531Arg
NM_001201377.2:c.1508C>G	NP_001188306.1:p.Pro503Arg
NM_001202404.2:c.1400C>G	NP_001189333.2:p.Pro467Arg