Canonical Allele Identifier: CA446280151

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880708A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545016A>G , CM000667.2:g.126545016A>G	GRCh38
NC_000005.9:g.125880708A>G , CM000667.1:g.125880708A>G	GRCh37
NC_000005.8:g.125908607A>G	NCBI36
NG_008600.2:g.55375T>C
NG_008600.3:g.55375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1569T>C MANE Select	ENSP00000387123.3:p.Thr523=
ENST00000458249.6:c.*1478T>C	ENSP00000403929.1:n.*1478T>C
ENST00000485852.7:n.316T>C
ENST00000497231.7:n.1996T>C
ENST00000635851.1:c.1563+1308T>C
ENST00000636286.1:n.1334T>C
ENST00000636482.1:n.1103T>C
ENST00000636743.1:c.1449T>C	ENSP00000489725.1:p.Thr483=
ENST00000636808.1:c.*1378T>C	ENSP00000490833.1:n.*1378T>C
ENST00000636872.1:c.1729T>C	ENSP00000490919.1:n.1729T>C
ENST00000636879.1:c.1614T>C	ENSP00000490811.1:p.Thr538=
ENST00000636886.1:c.1368T>C	ENSP00000490371.1:p.Thr456=
ENST00000637206.1:c.1389T>C	ENSP00000489895.1:p.Thr463=
ENST00000637272.1:c.1560T>C	ENSP00000489686.1:p.Thr520=
ENST00000637292.1:c.1025T>C
ENST00000637782.1:c.1565+1308T>C	ENSP00000490024.1:n.1565+1308T>C
ENST00000638008.1:c.*1413T>C	ENSP00000490400.1:n.*1413T>C
ENST00000638010.1:n.1515T>C
ENST00000409134.7:c.1569T>C	ENSP00000387123.3:p.Thr523=
ENST00000447989.6:c.1458T>C	ENSP00000414132.2:p.Thr486=
ENST00000485852.6:n.316T>C
ENST00000497231.6:n.1779T>C
ENST00000553117.5:c.1377T>C	ENSP00000448593.1:p.Thr459=
NM_001182.4:c.1569T>C	NP_001173.2:p.Thr523=
NM_001201377.1:c.1485T>C	NP_001188306.1:p.Thr495=
NM_001202404.1:c.1458T>C	NP_001189333.1:p.Thr486=
XM_011543417.1:c.1164T>C	XP_011541719.1:p.Thr388=
XM_011543417.2:c.1164T>C	XP_011541719.1:p.Thr388=
NM_001182.5:c.1569T>C MANE Select	NP_001173.2:p.Thr523=
NM_001201377.2:c.1485T>C	NP_001188306.1:p.Thr495=
NM_001202404.2:c.1377T>C	NP_001189333.2:p.Thr459=