Canonical Allele Identifier: CA360717820

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545002-T-C
• MyVariant Identifiers: chr5:g.125880694T>C (hg19) ; chr5:g.126545002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545002T>C , CM000667.2:g.126545002T>C	GRCh38
NC_000005.9:g.125880694T>C , CM000667.1:g.125880694T>C	GRCh37
NC_000005.8:g.125908593T>C	NCBI36
NG_008600.2:g.55389A>G
NG_008600.3:g.55389A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1583A>G MANE Select	ENSP00000387123.3:p.Lys528Arg
ENST00000458249.6:c.*1492A>G	ENSP00000403929.1:n.*1492A>G
ENST00000485852.7:n.330A>G
ENST00000497231.7:n.2010A>G
ENST00000635851.1:c.1563+1322A>G
ENST00000636286.1:n.1348A>G
ENST00000636482.1:n.1117A>G
ENST00000636743.1:c.1463A>G	ENSP00000489725.1:p.Lys488Arg
ENST00000636808.1:c.*1392A>G	ENSP00000490833.1:n.*1392A>G
ENST00000636872.1:c.1743A>G	ENSP00000490919.1:n.1743A>G
ENST00000636879.1:c.1628A>G	ENSP00000490811.1:p.Lys543Arg
ENST00000636886.1:c.1382A>G	ENSP00000490371.1:p.Lys461Arg
ENST00000637206.1:c.1403A>G	ENSP00000489895.1:p.Lys468Arg
ENST00000637272.1:c.1574A>G	ENSP00000489686.1:p.Lys525Arg
ENST00000637292.1:c.1039A>G
ENST00000637782.1:c.1565+1322A>G	ENSP00000490024.1:n.1565+1322A>G
ENST00000638008.1:c.*1427A>G	ENSP00000490400.1:n.*1427A>G
ENST00000638010.1:n.1529A>G
ENST00000409134.7:c.1583A>G	ENSP00000387123.3:p.Lys528Arg
ENST00000447989.6:c.1472A>G	ENSP00000414132.2:p.Lys491Arg
ENST00000485852.6:n.330A>G
ENST00000497231.6:n.1793A>G
ENST00000553117.5:c.1391A>G	ENSP00000448593.1:p.Lys464Arg
NM_001182.4:c.1583A>G	NP_001173.2:p.Lys528Arg
NM_001201377.1:c.1499A>G	NP_001188306.1:p.Lys500Arg
NM_001202404.1:c.1472A>G	NP_001189333.1:p.Lys491Arg
XM_011543417.1:c.1178A>G	XP_011541719.1:p.Lys393Arg
XM_011543417.2:c.1178A>G	XP_011541719.1:p.Lys393Arg
NM_001182.5:c.1583A>G MANE Select	NP_001173.2:p.Lys528Arg
NM_001201377.2:c.1499A>G	NP_001188306.1:p.Lys500Arg
NM_001202404.2:c.1391A>G	NP_001189333.2:p.Lys464Arg