Canonical Allele Identifier: CA360717898

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 940705
• ClinVar RCV Id: RCV001210348
• dbSNP Id: rs1749738847
• MyVariant Identifiers: chr5:g.125880702G>C (hg19) ; chr5:g.126545010G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545010G>C , CM000667.2:g.126545010G>C	GRCh38
NC_000005.9:g.125880702G>C , CM000667.1:g.125880702G>C	GRCh37
NC_000005.8:g.125908601G>C	NCBI36
NG_008600.2:g.55381C>G
NG_008600.3:g.55381C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1575C>G MANE Select	ENSP00000387123.3:p.Asn525Lys
ENST00000458249.6:c.*1484C>G	ENSP00000403929.1:n.*1484C>G
ENST00000485852.7:n.322C>G
ENST00000497231.7:n.2002C>G
ENST00000635851.1:c.1563+1314C>G
ENST00000636286.1:n.1340C>G
ENST00000636482.1:n.1109C>G
ENST00000636743.1:c.1455C>G	ENSP00000489725.1:p.Asn485Lys
ENST00000636808.1:c.*1384C>G	ENSP00000490833.1:n.*1384C>G
ENST00000636872.1:c.1735C>G	ENSP00000490919.1:n.1735C>G
ENST00000636879.1:c.1620C>G	ENSP00000490811.1:p.Asn540Lys
ENST00000636886.1:c.1374C>G	ENSP00000490371.1:p.Asn458Lys
ENST00000637206.1:c.1395C>G	ENSP00000489895.1:p.Asn465Lys
ENST00000637272.1:c.1566C>G	ENSP00000489686.1:p.Asn522Lys
ENST00000637292.1:c.1031C>G
ENST00000637782.1:c.1565+1314C>G	ENSP00000490024.1:n.1565+1314C>G
ENST00000638008.1:c.*1419C>G	ENSP00000490400.1:n.*1419C>G
ENST00000638010.1:n.1521C>G
ENST00000409134.7:c.1575C>G	ENSP00000387123.3:p.Asn525Lys
ENST00000447989.6:c.1464C>G	ENSP00000414132.2:p.Asn488Lys
ENST00000485852.6:n.322C>G
ENST00000497231.6:n.1785C>G
ENST00000553117.5:c.1383C>G	ENSP00000448593.1:p.Asn461Lys
NM_001182.4:c.1575C>G	NP_001173.2:p.Asn525Lys
NM_001201377.1:c.1491C>G	NP_001188306.1:p.Asn497Lys
NM_001202404.1:c.1464C>G	NP_001189333.1:p.Asn488Lys
XM_011543417.1:c.1170C>G	XP_011541719.1:p.Asn390Lys
XM_011543417.2:c.1170C>G	XP_011541719.1:p.Asn390Lys
NM_001182.5:c.1575C>G MANE Select	NP_001173.2:p.Asn525Lys
NM_001201377.2:c.1491C>G	NP_001188306.1:p.Asn497Lys
NM_001202404.2:c.1383C>G	NP_001189333.2:p.Asn461Lys