Canonical Allele Identifier: CA446280205

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2693514
• ClinVar RCV Id: RCV003517528
• MyVariant Identifiers: chr5:g.125882051A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546359A>G , CM000667.2:g.126546359A>G	GRCh38
NC_000005.9:g.125882051A>G , CM000667.1:g.125882051A>G	GRCh37
NC_000005.8:g.125909950A>G	NCBI36
NG_008600.2:g.54032T>C
NG_008600.3:g.54032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1530T>C MANE Select	ENSP00000387123.3:p.Ser510=
ENST00000458249.6:c.*1439T>C	ENSP00000403929.1:n.*1439T>C
ENST00000485852.7:n.277T>C
ENST00000497231.7:n.1957T>C
ENST00000635851.1:c.1528T>C
ENST00000636225.1:c.*1474T>C	ENSP00000490797.1:n.*1474T>C
ENST00000636286.1:n.1295T>C
ENST00000636482.1:n.1064T>C
ENST00000636743.1:c.1410T>C	ENSP00000489725.1:p.Ser470=
ENST00000636808.1:c.*1339T>C	ENSP00000490833.1:n.*1339T>C
ENST00000636872.1:c.1690T>C	ENSP00000490919.1:n.1690T>C
ENST00000636879.1:c.1575T>C	ENSP00000490811.1:p.Ser525=
ENST00000636886.1:c.1329T>C	ENSP00000490371.1:p.Ser443=
ENST00000637206.1:c.1350T>C	ENSP00000489895.1:p.Ser450=
ENST00000637272.1:c.1521T>C	ENSP00000489686.1:p.Ser507=
ENST00000637292.1:c.986T>C
ENST00000637782.1:c.1530T>C	ENSP00000490024.1:p.Ser510=
ENST00000638008.1:c.*1374T>C	ENSP00000490400.1:n.*1374T>C
ENST00000638010.1:n.1476T>C
ENST00000409134.7:c.1530T>C	ENSP00000387123.3:p.Ser510=
ENST00000447989.6:c.1419T>C	ENSP00000414132.2:p.Ser473=
ENST00000485852.6:n.277T>C
ENST00000497231.6:n.1740T>C
ENST00000553117.5:c.1338T>C	ENSP00000448593.1:p.Ser446=
NM_001182.4:c.1530T>C	NP_001173.2:p.Ser510=
NM_001201377.1:c.1446T>C	NP_001188306.1:p.Ser482=
NM_001202404.1:c.1419T>C	NP_001189333.1:p.Ser473=
XM_011543417.1:c.1125T>C	XP_011541719.1:p.Ser375=
XM_011543417.2:c.1125T>C	XP_011541719.1:p.Ser375=
NM_001182.5:c.1530T>C MANE Select	NP_001173.2:p.Ser510=
NM_001201377.2:c.1446T>C	NP_001188306.1:p.Ser482=
NM_001202404.2:c.1338T>C	NP_001189333.2:p.Ser446=