Canonical Allele Identifier: CA360723045

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1305098
• ClinVar RCV Id: RCV001773808
• dbSNP Id: rs925199159
• MyVariant Identifiers: chr5:g.125887756T>G (hg19) ; chr5:g.126552064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552064T>G , CM000667.2:g.126552064T>G	GRCh38
NC_000005.9:g.125887756T>G , CM000667.1:g.125887756T>G	GRCh37
NC_000005.8:g.125915655T>G	NCBI36
NG_008600.2:g.48327A>C
NG_008600.3:g.48327A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1274A>C MANE Select	ENSP00000387123.3:p.His425Pro
ENST00000458249.6:c.*1183A>C	ENSP00000403929.1:n.*1183A>C
ENST00000497231.7:n.1701A>C
ENST00000503281.6:c.863A>C
ENST00000635851.1:c.1272A>C
ENST00000636062.1:n.1169A>C
ENST00000636225.1:c.*1218A>C	ENSP00000490797.1:n.*1218A>C
ENST00000636286.1:n.992A>C
ENST00000636482.1:n.761A>C
ENST00000636743.1:c.1154A>C	ENSP00000489725.1:p.His385Pro
ENST00000636808.1:c.*1083A>C	ENSP00000490833.1:n.*1083A>C
ENST00000636872.1:c.1434A>C	ENSP00000490919.1:n.1434A>C
ENST00000636879.1:c.1319A>C	ENSP00000490811.1:p.His440Pro
ENST00000636886.1:c.1073A>C	ENSP00000490371.1:p.His358Pro
ENST00000637206.1:c.1094A>C	ENSP00000489895.1:p.His365Pro
ENST00000637272.1:c.1265A>C	ENSP00000489686.1:p.His422Pro
ENST00000637292.1:c.774-1771A>C
ENST00000637782.1:c.1274A>C	ENSP00000490024.1:p.His425Pro
ENST00000638008.1:c.*1118A>C	ENSP00000490400.1:n.*1118A>C
ENST00000638010.1:n.1220A>C
ENST00000409134.7:c.1274A>C	ENSP00000387123.3:p.His425Pro
ENST00000447989.6:c.1163A>C	ENSP00000414132.2:p.His388Pro
ENST00000476328.1:n.39A>C
ENST00000497231.6:n.1484A>C
ENST00000503281.5:c.863A>C
ENST00000553117.5:c.1082A>C	ENSP00000448593.1:p.His361Pro
NM_001182.4:c.1274A>C	NP_001173.2:p.His425Pro
NM_001201377.1:c.1190A>C	NP_001188306.1:p.His397Pro
NM_001202404.1:c.1163A>C	NP_001189333.1:p.His388Pro
XM_011543417.1:c.869A>C	XP_011541719.1:p.His290Pro
XM_011543417.2:c.869A>C	XP_011541719.1:p.His290Pro
NM_001182.5:c.1274A>C MANE Select	NP_001173.2:p.His425Pro
NM_001201377.2:c.1190A>C	NP_001188306.1:p.His397Pro
NM_001202404.2:c.1082A>C	NP_001189333.2:p.His361Pro