Canonical Allele Identifier: CA360717672

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880679G>C (hg19) ; chr5:g.126544987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544987G>C , CM000667.2:g.126544987G>C	GRCh38
NC_000005.9:g.125880679G>C , CM000667.1:g.125880679G>C	GRCh37
NC_000005.8:g.125908578G>C	NCBI36
NG_008600.2:g.55404C>G
NG_008600.3:g.55404C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1598C>G MANE Select	ENSP00000387123.3:p.Ala533Gly
ENST00000458249.6:c.*1507C>G	ENSP00000403929.1:n.*1507C>G
ENST00000485852.7:n.345C>G
ENST00000497231.7:n.2025C>G
ENST00000635851.1:c.1563+1337C>G
ENST00000636286.1:n.1363C>G
ENST00000636482.1:n.1132C>G
ENST00000636743.1:c.1478C>G	ENSP00000489725.1:p.Ala493Gly
ENST00000636808.1:c.*1407C>G	ENSP00000490833.1:n.*1407C>G
ENST00000636872.1:c.1758C>G	ENSP00000490919.1:n.1758C>G
ENST00000636879.1:c.1643C>G	ENSP00000490811.1:p.Ala548Gly
ENST00000636886.1:c.1397C>G	ENSP00000490371.1:p.Ala466Gly
ENST00000637206.1:c.1418C>G	ENSP00000489895.1:p.Ala473Gly
ENST00000637272.1:c.1589C>G	ENSP00000489686.1:p.Ala530Gly
ENST00000637292.1:c.1054C>G
ENST00000637782.1:c.1565+1337C>G	ENSP00000490024.1:n.1565+1337C>G
ENST00000638008.1:c.*1442C>G	ENSP00000490400.1:n.*1442C>G
ENST00000638010.1:n.1544C>G
ENST00000409134.7:c.1598C>G	ENSP00000387123.3:p.Ala533Gly
ENST00000447989.6:c.1487C>G	ENSP00000414132.2:p.Ala496Gly
ENST00000485852.6:n.345C>G
ENST00000497231.6:n.1808C>G
ENST00000553117.5:c.1406C>G	ENSP00000448593.1:p.Ala469Gly
NM_001182.4:c.1598C>G	NP_001173.2:p.Ala533Gly
NM_001201377.1:c.1514C>G	NP_001188306.1:p.Ala505Gly
NM_001202404.1:c.1487C>G	NP_001189333.1:p.Ala496Gly
XM_011543417.1:c.1193C>G	XP_011541719.1:p.Ala398Gly
XM_011543417.2:c.1193C>G	XP_011541719.1:p.Ala398Gly
NM_001182.5:c.1598C>G MANE Select	NP_001173.2:p.Ala533Gly
NM_001201377.2:c.1514C>G	NP_001188306.1:p.Ala505Gly
NM_001202404.2:c.1406C>G	NP_001189333.2:p.Ala469Gly