Canonical Allele Identifier: CA562238662

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1263034006
• gnomAD v2: 5-125918712-A-C
• gnomAD v4: 5-126583020-A-C
• MyVariant Identifiers: chr5:g.125918712A>C (hg19) ; chr5:g.126583020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126583020A>C , CM000667.2:g.126583020A>C	GRCh38
NC_000005.9:g.125918712A>C , CM000667.1:g.125918712A>C	GRCh37
NC_000005.8:g.125946611A>C	NCBI36
NG_008600.2:g.17371T>G
NG_008600.3:g.17371T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.394-46T>G MANE Select	ENSP00000387123.3:n.394-46T>G
ENST00000412186.2:c.393+912T>G	ENSP00000414536.2:n.393+912T>G
ENST00000413020.6:c.394-46T>G	ENSP00000487936.1:n.394-46T>G
ENST00000458249.6:c.*303-46T>G	ENSP00000403929.1:n.*303-46T>G
ENST00000479989.6:n.577-46T>G
ENST00000503281.6:c.107-5809T>G
ENST00000509270.2:c.328-46T>G	ENSP00000449318.2:n.328-46T>G
ENST00000509459.6:c.66-5809T>G
ENST00000511266.6:n.1116-46T>G
ENST00000635851.1:c.392-46T>G
ENST00000636062.1:n.289-46T>G
ENST00000636190.1:n.273-46T>G
ENST00000636225.1:c.*203-46T>G	ENSP00000490797.1:n.*203-46T>G
ENST00000636286.1:n.112-46T>G
ENST00000636743.1:c.274-46T>G	ENSP00000489725.1:n.274-46T>G
ENST00000636808.1:c.*203-46T>G	ENSP00000490833.1:n.*203-46T>G
ENST00000636872.1:c.554-46T>G	ENSP00000490919.1:n.554-46T>G
ENST00000636879.1:c.394-46T>G	ENSP00000490811.1:n.394-46T>G
ENST00000636886.1:c.193-46T>G	ENSP00000490371.1:n.193-46T>G
ENST00000637070.1:n.8-46T>G
ENST00000637206.1:c.394-46T>G	ENSP00000489895.1:n.394-46T>G
ENST00000637272.1:c.394-46T>G	ENSP00000489686.1:n.394-46T>G
ENST00000637292.1:c.47-46T>G
ENST00000637782.1:c.394-46T>G	ENSP00000490024.1:n.394-46T>G
ENST00000637964.1:c.340-46T>G	ENSP00000490291.1:n.340-46T>G
ENST00000638008.1:c.*336-46T>G	ENSP00000490400.1:n.*336-46T>G
ENST00000409134.7:c.394-46T>G	ENSP00000387123.3:n.394-46T>G
ENST00000413020.5:c.394-46T>G	ENSP00000487936.1:n.394-46T>G
ENST00000447989.6:c.475-46T>G	ENSP00000414132.2:n.475-46T>G
ENST00000458249.5:c.554-46T>G	ENSP00000403929.1:n.554-46T>G
ENST00000503281.5:c.107-5809T>G
ENST00000509270.1:c.274-46T>G	ENSP00000449318.1:n.274-46T>G
ENST00000509459.5:c.66-5809T>G
ENST00000510111.6:c.307-46T>G	ENSP00000447388.1:n.307-46T>G
ENST00000511266.5:n.348+912T>G
ENST00000553117.5:c.394-46T>G	ENSP00000448593.1:n.394-46T>G
NM_001182.4:c.394-46T>G	NP_001173.2:n.394-46T>G
NM_001201377.1:c.310-46T>G	NP_001188306.1:n.310-46T>G
NM_001202404.1:c.475-46T>G	NP_001189333.1:n.475-46T>G
XM_011543417.1:c.-12-46T>G	XP_011541719.1:n.-12-46T>G
XM_011543417.2:c.-12-46T>G	XP_011541719.1:n.-12-46T>G
NM_001182.5:c.394-46T>G MANE Select	NP_001173.2:n.394-46T>G
NM_001201377.2:c.310-46T>G	NP_001188306.1:n.310-46T>G
NM_001202404.2:c.394-46T>G	NP_001189333.2:n.394-46T>G