Canonical Allele Identifier: CA3389785

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 377461
• ClinVar RCV Id: RCV000441435 ; RCV001151406
• dbSNP Id: rs183254966
• ExAC: 5:125919609 A / G
• gnomAD v2: 5-125919609-A-G
• gnomAD v3: 5-126583917-A-G
• gnomAD v4: 5-126583917-A-G
• MyVariant Identifiers: chr5:g.125919609A>G (hg19) ; chr5:g.126583917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126583917A>G , CM000667.2:g.126583917A>G	GRCh38
NC_000005.9:g.125919609A>G , CM000667.1:g.125919609A>G	GRCh37
NC_000005.8:g.125947508A>G	NCBI36
NG_008600.2:g.16474T>C
NG_008600.3:g.16474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.393+15T>C MANE Select	ENSP00000387123.3:n.393+15T>C
ENST00000412186.2:c.393+15T>C	ENSP00000414536.2:n.393+15T>C
ENST00000413020.6:c.393+15T>C	ENSP00000487936.1:n.393+15T>C
ENST00000458249.6:c.*302+15T>C	ENSP00000403929.1:n.*302+15T>C
ENST00000479989.6:n.576+15T>C
ENST00000503281.6:c.107-6706T>C
ENST00000509270.2:c.327+15T>C	ENSP00000449318.2:n.327+15T>C
ENST00000509459.6:c.66-6706T>C
ENST00000511266.6:n.1115+15T>C
ENST00000635851.1:c.391+15T>C
ENST00000636062.1:n.288+15T>C
ENST00000636190.1:n.272+15T>C
ENST00000636225.1:c.*202+15T>C	ENSP00000490797.1:n.*202+15T>C
ENST00000636286.1:n.111+15T>C
ENST00000636743.1:c.273+15T>C	ENSP00000489725.1:n.273+15T>C
ENST00000636808.1:c.*202+15T>C	ENSP00000490833.1:n.*202+15T>C
ENST00000636872.1:c.553+15T>C	ENSP00000490919.1:n.553+15T>C
ENST00000636879.1:c.393+15T>C	ENSP00000490811.1:n.393+15T>C
ENST00000636886.1:c.193-943T>C	ENSP00000490371.1:n.193-943T>C
ENST00000637070.1:n.7+15T>C
ENST00000637206.1:c.393+15T>C	ENSP00000489895.1:n.393+15T>C
ENST00000637272.1:c.393+15T>C	ENSP00000489686.1:n.393+15T>C
ENST00000637292.1:c.46+15T>C
ENST00000637782.1:c.393+15T>C	ENSP00000490024.1:n.393+15T>C
ENST00000637964.1:c.339+15T>C	ENSP00000490291.1:n.339+15T>C
ENST00000638008.1:c.*335+15T>C	ENSP00000490400.1:n.*335+15T>C
ENST00000409134.7:c.393+15T>C	ENSP00000387123.3:n.393+15T>C
ENST00000413020.5:c.393+15T>C	ENSP00000487936.1:n.393+15T>C
ENST00000447989.6:c.474+15T>C	ENSP00000414132.2:n.474+15T>C
ENST00000458249.5:c.553+15T>C	ENSP00000403929.1:n.553+15T>C
ENST00000503281.5:c.107-6706T>C
ENST00000509270.1:c.273+15T>C	ENSP00000449318.1:n.273+15T>C
ENST00000509459.5:c.66-6706T>C
ENST00000510111.6:c.307-943T>C	ENSP00000447388.1:n.307-943T>C
ENST00000511266.5:n.348+15T>C
ENST00000553117.5:c.393+15T>C	ENSP00000448593.1:n.393+15T>C
NM_001182.4:c.393+15T>C	NP_001173.2:n.393+15T>C
NM_001201377.1:c.309+15T>C	NP_001188306.1:n.309+15T>C
NM_001202404.1:c.474+15T>C	NP_001189333.1:n.474+15T>C
XM_011543417.1:c.-13+15T>C	XP_011541719.1:n.-13+15T>C
XM_011543417.2:c.-13+15T>C	XP_011541719.1:n.-13+15T>C
NM_001182.5:c.393+15T>C MANE Select	NP_001173.2:n.393+15T>C
NM_001201377.2:c.309+15T>C	NP_001188306.1:n.309+15T>C
NM_001202404.2:c.393+15T>C	NP_001189333.2:n.393+15T>C