Canonical Allele Identifier: CA3389675

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 511910
• ClinVar RCV Id: RCV000615061 ; RCV001868060
• dbSNP Id: rs749516893
• ExAC: 5:125906554 A / G
• gnomAD v2: 5-125906554-A-G
• gnomAD v3: 5-126570862-A-G
• gnomAD v4: 5-126570862-A-G
• MyVariant Identifiers: chr5:g.125906554A>G (hg19) ; chr5:g.126570862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126570862A>G , CM000667.2:g.126570862A>G	GRCh38
NC_000005.9:g.125906554A>G , CM000667.1:g.125906554A>G	GRCh37
NC_000005.8:g.125934453A>G	NCBI36
NG_008600.2:g.29529T>C
NG_008600.3:g.29529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.696-3T>C MANE Select	ENSP00000387123.3:n.696-3T>C
ENST00000413020.6:c.696-3T>C	ENSP00000487936.1:n.696-3T>C
ENST00000458249.6:c.*605-3T>C	ENSP00000403929.1:n.*605-3T>C
ENST00000503281.6:c.285-3T>C
ENST00000509459.6:c.244-3T>C
ENST00000511266.6:n.1418-3T>C
ENST00000635851.1:c.694-3T>C
ENST00000636062.1:n.591-3T>C
ENST00000636225.1:c.*505-3T>C	ENSP00000490797.1:n.*505-3T>C
ENST00000636286.1:n.414-3T>C
ENST00000636743.1:c.576-3T>C	ENSP00000489725.1:n.576-3T>C
ENST00000636808.1:c.*505-3T>C	ENSP00000490833.1:n.*505-3T>C
ENST00000636872.1:c.856-3T>C	ENSP00000490919.1:n.856-3T>C
ENST00000636879.1:c.741-3T>C	ENSP00000490811.1:n.741-3T>C
ENST00000636886.1:c.495-3T>C	ENSP00000490371.1:n.495-3T>C
ENST00000636892.1:n.276T>C
ENST00000637206.1:c.696-3T>C	ENSP00000489895.1:n.696-3T>C
ENST00000637272.1:c.696-3T>C	ENSP00000489686.1:n.696-3T>C
ENST00000637292.1:c.349-3T>C
ENST00000637782.1:c.696-3T>C	ENSP00000490024.1:n.696-3T>C
ENST00000637964.1:c.642-3T>C	ENSP00000490291.1:n.642-3T>C
ENST00000638008.1:c.*638-3T>C	ENSP00000490400.1:n.*638-3T>C
ENST00000409134.7:c.696-3T>C	ENSP00000387123.3:n.696-3T>C
ENST00000413020.5:c.696-3T>C	ENSP00000487936.1:n.696-3T>C
ENST00000433026.5:n.223-3T>C
ENST00000447989.6:c.777-3T>C	ENSP00000414132.2:n.777-3T>C
ENST00000458249.5:c.856-3T>C	ENSP00000403929.1:n.856-3T>C
ENST00000503281.5:c.285-3T>C
ENST00000509459.5:c.244-3T>C
ENST00000510111.6:c.609-3T>C	ENSP00000447388.1:n.609-3T>C
ENST00000553117.5:c.696-3T>C	ENSP00000448593.1:n.696-3T>C
NM_001182.4:c.696-3T>C	NP_001173.2:n.696-3T>C
NM_001201377.1:c.612-3T>C	NP_001188306.1:n.612-3T>C
NM_001202404.1:c.777-3T>C	NP_001189333.1:n.777-3T>C
XM_011543417.1:c.291-3T>C	XP_011541719.1:n.291-3T>C
XM_011543417.2:c.291-3T>C	XP_011541719.1:n.291-3T>C
NM_001182.5:c.696-3T>C MANE Select	NP_001173.2:n.696-3T>C
NM_001201377.2:c.612-3T>C	NP_001188306.1:n.612-3T>C
NM_001202404.2:c.696-3T>C	NP_001189333.2:n.696-3T>C