Canonical Allele Identifier: CA562235809

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1488579591
• gnomAD v2: 5-125903901-A-G
• gnomAD v3: 5-126568209-A-G
• gnomAD v4: 5-126568209-A-G
• MyVariant Identifiers: chr5:g.125903901A>G (hg19) ; chr5:g.126568209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126568209A>G , CM000667.2:g.126568209A>G	GRCh38
NC_000005.9:g.125903901A>G , CM000667.1:g.125903901A>G	GRCh37
NC_000005.8:g.125931800A>G	NCBI36
NG_008600.2:g.32182T>C
NG_008600.3:g.32182T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.871+50T>C MANE Select	ENSP00000387123.3:n.871+50T>C
ENST00000413020.6:c.871+50T>C	ENSP00000487936.1:n.871+50T>C
ENST00000458249.6:c.*780+50T>C	ENSP00000403929.1:n.*780+50T>C
ENST00000503281.6:c.460+50T>C
ENST00000509459.6:c.419+50T>C
ENST00000511266.6:n.1643T>C
ENST00000635851.1:c.869+50T>C
ENST00000636062.1:n.766+50T>C
ENST00000636225.1:c.*680+50T>C	ENSP00000490797.1:n.*680+50T>C
ENST00000636286.1:n.589+50T>C
ENST00000636743.1:c.751+50T>C	ENSP00000489725.1:n.751+50T>C
ENST00000636808.1:c.*680+50T>C	ENSP00000490833.1:n.*680+50T>C
ENST00000636872.1:c.1031+50T>C	ENSP00000490919.1:n.1031+50T>C
ENST00000636879.1:c.916+50T>C	ENSP00000490811.1:n.916+50T>C
ENST00000636886.1:c.670+50T>C	ENSP00000490371.1:n.670+50T>C
ENST00000636892.1:n.2929T>C
ENST00000637206.1:c.871+50T>C	ENSP00000489895.1:n.871+50T>C
ENST00000637272.1:c.871+50T>C	ENSP00000489686.1:n.871+50T>C
ENST00000637292.1:c.426+2573T>C
ENST00000637782.1:c.871+50T>C	ENSP00000490024.1:n.871+50T>C
ENST00000637964.1:c.817+50T>C	ENSP00000490291.1:n.817+50T>C
ENST00000638008.1:c.*715+2573T>C	ENSP00000490400.1:n.*715+2573T>C
ENST00000409134.7:c.871+50T>C	ENSP00000387123.3:n.871+50T>C
ENST00000413020.5:c.871+50T>C	ENSP00000487936.1:n.871+50T>C
ENST00000433026.5:n.398+50T>C
ENST00000447989.6:c.952+50T>C	ENSP00000414132.2:n.952+50T>C
ENST00000503281.5:c.460+50T>C
ENST00000509459.5:c.419+50T>C
ENST00000553117.5:c.871+50T>C	ENSP00000448593.1:n.871+50T>C
NM_001182.4:c.871+50T>C	NP_001173.2:n.871+50T>C
NM_001201377.1:c.787+50T>C	NP_001188306.1:n.787+50T>C
NM_001202404.1:c.952+50T>C	NP_001189333.1:n.952+50T>C
XM_011543417.1:c.466+50T>C	XP_011541719.1:n.466+50T>C
XM_011543417.2:c.466+50T>C	XP_011541719.1:n.466+50T>C
NM_001182.5:c.871+50T>C MANE Select	NP_001173.2:n.871+50T>C
NM_001201377.2:c.787+50T>C	NP_001188306.1:n.787+50T>C
NM_001202404.2:c.871+50T>C	NP_001189333.2:n.871+50T>C