Canonical Allele Identifier: CA313183

Gene: ALDH7A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126568304T>G , CM000667.2:g.126568304T>G	GRCh38
NC_000005.9:g.125903996T>G , CM000667.1:g.125903996T>G	GRCh37
NC_000005.8:g.125931895T>G	NCBI36
NG_008600.2:g.32087A>C
NG_008600.3:g.32087A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.826A>C MANE Select	ENSP00000387123.3:p.Thr276Pro
ENST00000413020.6:c.826A>C	ENSP00000487936.1:p.Thr276Pro
ENST00000458249.6:c.*735A>C	ENSP00000403929.1:n.*735A>C
ENST00000503281.6:c.415A>C
ENST00000509459.6:c.374A>C
ENST00000511266.6:n.1548A>C
ENST00000635851.1:c.824A>C
ENST00000636062.1:n.721A>C
ENST00000636225.1:c.*635A>C	ENSP00000490797.1:n.*635A>C
ENST00000636286.1:n.544A>C
ENST00000636743.1:c.706A>C	ENSP00000489725.1:p.Thr236Pro
ENST00000636808.1:c.*635A>C	ENSP00000490833.1:n.*635A>C
ENST00000636872.1:c.986A>C	ENSP00000490919.1:n.986A>C
ENST00000636879.1:c.871A>C	ENSP00000490811.1:p.Thr291Pro
ENST00000636886.1:c.625A>C	ENSP00000490371.1:p.Thr209Pro
ENST00000636892.1:n.2834A>C
ENST00000637206.1:c.826A>C	ENSP00000489895.1:p.Thr276Pro
ENST00000637272.1:c.826A>C	ENSP00000489686.1:p.Thr276Pro
ENST00000637292.1:c.426+2478A>C
ENST00000637782.1:c.826A>C	ENSP00000490024.1:p.Thr276Pro
ENST00000637964.1:c.772A>C	ENSP00000490291.1:p.Thr258Pro
ENST00000638008.1:c.*715+2478A>C	ENSP00000490400.1:n.*715+2478A>C
ENST00000409134.7:c.826A>C	ENSP00000387123.3:p.Thr276Pro
ENST00000413020.5:c.826A>C	ENSP00000487936.1:p.Thr276Pro
ENST00000433026.5:n.353A>C
ENST00000447989.6:c.907A>C	ENSP00000414132.2:p.Thr303Pro
ENST00000458249.5:c.986A>C	ENSP00000403929.1:n.986A>C
ENST00000503281.5:c.415A>C
ENST00000509459.5:c.374A>C
ENST00000553117.5:c.826A>C	ENSP00000448593.1:p.Thr276Pro
NM_001182.4:c.826A>C	NP_001173.2:p.Thr276Pro
NM_001201377.1:c.742A>C	NP_001188306.1:p.Thr248Pro
NM_001202404.1:c.907A>C	NP_001189333.1:p.Thr303Pro
XM_011543417.1:c.421A>C	XP_011541719.1:p.Thr141Pro
XM_011543417.2:c.421A>C	XP_011541719.1:p.Thr141Pro
NM_001182.5:c.826A>C MANE Select	NP_001173.2:p.Thr276Pro
NM_001201377.2:c.742A>C	NP_001188306.1:p.Thr248Pro
NM_001202404.2:c.826A>C	NP_001189333.2:p.Thr276Pro