Canonical Allele Identifier: CA360731764

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126582887-A-G
• MyVariant Identifiers: chr5:g.125918579A>G (hg19) ; chr5:g.126582887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582887A>G , CM000667.2:g.126582887A>G	GRCh38
NC_000005.9:g.125918579A>G , CM000667.1:g.125918579A>G	GRCh37
NC_000005.8:g.125946478A>G	NCBI36
NG_008600.2:g.17504T>C
NG_008600.3:g.17504T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.481T>C MANE Select	ENSP00000387123.3:p.Ser161Pro
ENST00000412186.2:c.393+1045T>C	ENSP00000414536.2:n.393+1045T>C
ENST00000413020.6:c.481T>C	ENSP00000487936.1:p.Ser161Pro
ENST00000458249.6:c.*390T>C	ENSP00000403929.1:n.*390T>C
ENST00000503281.6:c.107-5676T>C
ENST00000509270.2:c.415T>C	ENSP00000449318.2:p.Ser139Pro
ENST00000509459.6:c.66-5676T>C
ENST00000511266.6:n.1203T>C
ENST00000635851.1:c.479T>C
ENST00000636062.1:n.376T>C
ENST00000636190.1:n.360T>C
ENST00000636225.1:c.*290T>C	ENSP00000490797.1:n.*290T>C
ENST00000636286.1:n.199T>C
ENST00000636743.1:c.361T>C	ENSP00000489725.1:p.Ser121Pro
ENST00000636808.1:c.*290T>C	ENSP00000490833.1:n.*290T>C
ENST00000636872.1:c.641T>C	ENSP00000490919.1:n.641T>C
ENST00000636879.1:c.481T>C	ENSP00000490811.1:p.Ser161Pro
ENST00000636886.1:c.280T>C	ENSP00000490371.1:p.Ser94Pro
ENST00000637070.1:n.95T>C
ENST00000637206.1:c.481T>C	ENSP00000489895.1:p.Ser161Pro
ENST00000637272.1:c.481T>C	ENSP00000489686.1:p.Ser161Pro
ENST00000637292.1:c.134T>C
ENST00000637782.1:c.481T>C	ENSP00000490024.1:p.Ser161Pro
ENST00000637964.1:c.427T>C	ENSP00000490291.1:p.Ser143Pro
ENST00000638008.1:c.*423T>C	ENSP00000490400.1:n.*423T>C
ENST00000409134.7:c.481T>C	ENSP00000387123.3:p.Ser161Pro
ENST00000413020.5:c.481T>C	ENSP00000487936.1:p.Ser161Pro
ENST00000447989.6:c.562T>C	ENSP00000414132.2:p.Ser188Pro
ENST00000458249.5:c.641T>C	ENSP00000403929.1:n.641T>C
ENST00000503281.5:c.107-5676T>C
ENST00000509270.1:c.361T>C	ENSP00000449318.1:p.Ser121Pro
ENST00000509459.5:c.66-5676T>C
ENST00000510111.6:c.394T>C	ENSP00000447388.1:p.Ser132Pro
ENST00000511266.5:n.348+1045T>C
ENST00000553117.5:c.481T>C	ENSP00000448593.1:p.Ser161Pro
NM_001182.4:c.481T>C	NP_001173.2:p.Ser161Pro
NM_001201377.1:c.397T>C	NP_001188306.1:p.Ser133Pro
NM_001202404.1:c.562T>C	NP_001189333.1:p.Ser188Pro
XM_011543417.1:c.76T>C	XP_011541719.1:p.Ser26Pro
XM_011543417.2:c.76T>C	XP_011541719.1:p.Ser26Pro
NM_001182.5:c.481T>C MANE Select	NP_001173.2:p.Ser161Pro
NM_001201377.2:c.397T>C	NP_001188306.1:p.Ser133Pro
NM_001202404.2:c.481T>C	NP_001189333.2:p.Ser161Pro