Canonical Allele Identifier: CA3389478

Gene: ALDH7A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552114A>G , CM000667.2:g.126552114A>G	GRCh38
NC_000005.9:g.125887806A>G , CM000667.1:g.125887806A>G	GRCh37
NC_000005.8:g.125915705A>G	NCBI36
NG_008600.2:g.48277T>C
NG_008600.3:g.48277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1224T>C MANE Select	ENSP00000387123.3:p.Tyr408=
ENST00000458249.6:c.*1133T>C	ENSP00000403929.1:n.*1133T>C
ENST00000497231.7:n.1651T>C
ENST00000503281.6:c.813T>C
ENST00000635851.1:c.1222T>C
ENST00000636062.1:n.1119T>C
ENST00000636225.1:c.*1168T>C	ENSP00000490797.1:n.*1168T>C
ENST00000636286.1:n.942T>C
ENST00000636482.1:n.711T>C
ENST00000636743.1:c.1104T>C	ENSP00000489725.1:p.Tyr368=
ENST00000636808.1:c.*1033T>C	ENSP00000490833.1:n.*1033T>C
ENST00000636872.1:c.1384T>C	ENSP00000490919.1:n.1384T>C
ENST00000636879.1:c.1269T>C	ENSP00000490811.1:p.Tyr423=
ENST00000636886.1:c.1023T>C	ENSP00000490371.1:p.Tyr341=
ENST00000637206.1:c.1044T>C	ENSP00000489895.1:p.Tyr348=
ENST00000637272.1:c.1215T>C	ENSP00000489686.1:p.Tyr405=
ENST00000637292.1:c.774-1821T>C
ENST00000637782.1:c.1224T>C	ENSP00000490024.1:p.Tyr408=
ENST00000638008.1:c.*1068T>C	ENSP00000490400.1:n.*1068T>C
ENST00000638010.1:n.1170T>C
ENST00000409134.7:c.1224T>C	ENSP00000387123.3:p.Tyr408=
ENST00000447989.6:c.1113T>C	ENSP00000414132.2:p.Tyr371=
ENST00000497231.6:n.1434T>C
ENST00000503281.5:c.813T>C
ENST00000553117.5:c.1032T>C	ENSP00000448593.1:p.Tyr344=
NM_001182.4:c.1224T>C	NP_001173.2:p.Tyr408=
NM_001201377.1:c.1140T>C	NP_001188306.1:p.Tyr380=
NM_001202404.1:c.1113T>C	NP_001189333.1:p.Tyr371=
XM_011543417.1:c.819T>C	XP_011541719.1:p.Tyr273=
XM_011543417.2:c.819T>C	XP_011541719.1:p.Tyr273=
NM_001182.5:c.1224T>C MANE Select	NP_001173.2:p.Tyr408=
NM_001201377.2:c.1140T>C	NP_001188306.1:p.Tyr380=
NM_001202404.2:c.1032T>C	NP_001189333.2:p.Tyr344=