Canonical Allele Identifier: CA360718820

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882023A>G (hg19) ; chr5:g.126546331A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546331A>G , CM000667.2:g.126546331A>G	GRCh38
NC_000005.9:g.125882023A>G , CM000667.1:g.125882023A>G	GRCh37
NC_000005.8:g.125909922A>G	NCBI36
NG_008600.2:g.54060T>C
NG_008600.3:g.54060T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1558T>C MANE Select	ENSP00000387123.3:p.Ser520Pro
ENST00000458249.6:c.*1467T>C	ENSP00000403929.1:n.*1467T>C
ENST00000485852.7:n.305T>C
ENST00000497231.7:n.1985T>C
ENST00000635851.1:c.1556T>C
ENST00000636286.1:n.1323T>C
ENST00000636482.1:n.1092T>C
ENST00000636743.1:c.1438T>C	ENSP00000489725.1:p.Ser480Pro
ENST00000636808.1:c.*1367T>C	ENSP00000490833.1:n.*1367T>C
ENST00000636872.1:c.1718T>C	ENSP00000490919.1:n.1718T>C
ENST00000636879.1:c.1603T>C	ENSP00000490811.1:p.Ser535Pro
ENST00000636886.1:c.1357T>C	ENSP00000490371.1:p.Ser453Pro
ENST00000637206.1:c.1378T>C	ENSP00000489895.1:p.Ser460Pro
ENST00000637272.1:c.1549T>C	ENSP00000489686.1:p.Ser517Pro
ENST00000637292.1:c.1014T>C
ENST00000637782.1:c.1558T>C	ENSP00000490024.1:p.Ser520Pro
ENST00000638008.1:c.*1402T>C	ENSP00000490400.1:n.*1402T>C
ENST00000638010.1:n.1504T>C
ENST00000409134.7:c.1558T>C	ENSP00000387123.3:p.Ser520Pro
ENST00000447989.6:c.1447T>C	ENSP00000414132.2:p.Ser483Pro
ENST00000485852.6:n.305T>C
ENST00000497231.6:n.1768T>C
ENST00000553117.5:c.1366T>C	ENSP00000448593.1:p.Ser456Pro
NM_001182.4:c.1558T>C	NP_001173.2:p.Ser520Pro
NM_001201377.1:c.1474T>C	NP_001188306.1:p.Ser492Pro
NM_001202404.1:c.1447T>C	NP_001189333.1:p.Ser483Pro
XM_011543417.1:c.1153T>C	XP_011541719.1:p.Ser385Pro
XM_011543417.2:c.1153T>C	XP_011541719.1:p.Ser385Pro
NM_001182.5:c.1558T>C MANE Select	NP_001173.2:p.Ser520Pro
NM_001201377.2:c.1474T>C	NP_001188306.1:p.Ser492Pro
NM_001202404.2:c.1366T>C	NP_001189333.2:p.Ser456Pro