Canonical Allele Identifier: CA313149

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 204820
• ClinVar RCV Id: RCV000186716 ; RCV001080203 ; RCV000641169
• dbSNP Id: rs150623275
• ExAC: 5:125903964 C / T
• gnomAD v2: 5-125903964-C-T
• gnomAD v3: 5-126568272-C-T
• gnomAD v4: 5-126568272-C-T
• MyVariant Identifiers: chr5:g.125903964C>T (hg19) ; chr5:g.126568272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126568272C>T , CM000667.2:g.126568272C>T	GRCh38
NC_000005.9:g.125903964C>T , CM000667.1:g.125903964C>T	GRCh37
NC_000005.8:g.125931863C>T	NCBI36
NG_008600.2:g.32119G>A
NG_008600.3:g.32119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.858G>A MANE Select	ENSP00000387123.3:p.Val286=
ENST00000413020.6:c.858G>A	ENSP00000487936.1:p.Val286=
ENST00000458249.6:c.*767G>A	ENSP00000403929.1:n.*767G>A
ENST00000503281.6:c.447G>A
ENST00000509459.6:c.406G>A
ENST00000511266.6:n.1580G>A
ENST00000635851.1:c.856G>A
ENST00000636062.1:n.753G>A
ENST00000636225.1:c.*667G>A	ENSP00000490797.1:n.*667G>A
ENST00000636286.1:n.576G>A
ENST00000636743.1:c.738G>A	ENSP00000489725.1:p.Val246=
ENST00000636808.1:c.*667G>A	ENSP00000490833.1:n.*667G>A
ENST00000636872.1:c.1018G>A	ENSP00000490919.1:n.1018G>A
ENST00000636879.1:c.903G>A	ENSP00000490811.1:p.Val301=
ENST00000636886.1:c.657G>A	ENSP00000490371.1:p.Val219=
ENST00000636892.1:n.2866G>A
ENST00000637206.1:c.858G>A	ENSP00000489895.1:p.Val286=
ENST00000637272.1:c.858G>A	ENSP00000489686.1:p.Val286=
ENST00000637292.1:c.426+2510G>A
ENST00000637782.1:c.858G>A	ENSP00000490024.1:p.Val286=
ENST00000637964.1:c.804G>A	ENSP00000490291.1:p.Val268=
ENST00000638008.1:c.*715+2510G>A	ENSP00000490400.1:n.*715+2510G>A
ENST00000409134.7:c.858G>A	ENSP00000387123.3:p.Val286=
ENST00000413020.5:c.858G>A	ENSP00000487936.1:p.Val286=
ENST00000433026.5:n.385G>A
ENST00000447989.6:c.939G>A	ENSP00000414132.2:p.Val313=
ENST00000458249.5:c.1018G>A	ENSP00000403929.1:n.1018G>A
ENST00000503281.5:c.447G>A
ENST00000509459.5:c.406G>A
ENST00000553117.5:c.858G>A	ENSP00000448593.1:p.Val286=
NM_001182.4:c.858G>A	NP_001173.2:p.Val286=
NM_001201377.1:c.774G>A	NP_001188306.1:p.Val258=
NM_001202404.1:c.939G>A	NP_001189333.1:p.Val313=
XM_011543417.1:c.453G>A	XP_011541719.1:p.Val151=
XM_011543417.2:c.453G>A	XP_011541719.1:p.Val151=
NM_001182.5:c.858G>A MANE Select	NP_001173.2:p.Val286=
NM_001201377.2:c.774G>A	NP_001188306.1:p.Val258=
NM_001202404.2:c.858G>A	NP_001189333.2:p.Val286=