Canonical Allele Identifier: CA446280099

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880663A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544971A>G , CM000667.2:g.126544971A>G	GRCh38
NC_000005.9:g.125880663A>G , CM000667.1:g.125880663A>G	GRCh37
NC_000005.8:g.125908562A>G	NCBI36
NG_008600.2:g.55420T>C
NG_008600.3:g.55420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1614T>C MANE Select	ENSP00000387123.3:p.Phe538=
ENST00000458249.6:c.*1523T>C	ENSP00000403929.1:n.*1523T>C
ENST00000485852.7:n.361T>C
ENST00000497231.7:n.2041T>C
ENST00000635851.1:c.1563+1353T>C
ENST00000636286.1:n.1379T>C
ENST00000636482.1:n.1148T>C
ENST00000636743.1:c.1494T>C	ENSP00000489725.1:p.Phe498=
ENST00000636808.1:c.*1423T>C	ENSP00000490833.1:n.*1423T>C
ENST00000636872.1:c.1774T>C	ENSP00000490919.1:n.1774T>C
ENST00000636879.1:c.1659T>C	ENSP00000490811.1:p.Phe553=
ENST00000636886.1:c.1413T>C	ENSP00000490371.1:p.Phe471=
ENST00000637206.1:c.1434T>C	ENSP00000489895.1:p.Phe478=
ENST00000637272.1:c.1605T>C	ENSP00000489686.1:p.Phe535=
ENST00000637292.1:c.1070T>C
ENST00000637782.1:c.1565+1353T>C	ENSP00000490024.1:n.1565+1353T>C
ENST00000638008.1:c.*1458T>C	ENSP00000490400.1:n.*1458T>C
ENST00000638010.1:n.1560T>C
ENST00000409134.7:c.1614T>C	ENSP00000387123.3:p.Phe538=
ENST00000447989.6:c.1503T>C	ENSP00000414132.2:p.Phe501=
ENST00000485852.6:n.361T>C
ENST00000497231.6:n.1824T>C
ENST00000553117.5:c.1422T>C	ENSP00000448593.1:p.Phe474=
NM_001182.4:c.1614T>C	NP_001173.2:p.Phe538=
NM_001201377.1:c.1530T>C	NP_001188306.1:p.Phe510=
NM_001202404.1:c.1503T>C	NP_001189333.1:p.Phe501=
XM_011543417.1:c.1209T>C	XP_011541719.1:p.Phe403=
XM_011543417.2:c.1209T>C	XP_011541719.1:p.Phe403=
NM_001182.5:c.1614T>C MANE Select	NP_001173.2:p.Phe538=
NM_001201377.2:c.1530T>C	NP_001188306.1:p.Phe510=
NM_001202404.2:c.1422T>C	NP_001189333.2:p.Phe474=