Canonical Allele Identifier: CA446280563

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2865893
• ClinVar RCV Id: RCV003632267
• gnomAD v4: 5-126552066-T-G
• MyVariant Identifiers: chr5:g.125887758T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552066T>G , CM000667.2:g.126552066T>G	GRCh38
NC_000005.9:g.125887758T>G , CM000667.1:g.125887758T>G	GRCh37
NC_000005.8:g.125915657T>G	NCBI36
NG_008600.2:g.48325A>C
NG_008600.3:g.48325A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1272A>C MANE Select	ENSP00000387123.3:p.Ala424=
ENST00000458249.6:c.*1181A>C	ENSP00000403929.1:n.*1181A>C
ENST00000497231.7:n.1699A>C
ENST00000503281.6:c.861A>C
ENST00000635851.1:c.1270A>C
ENST00000636062.1:n.1167A>C
ENST00000636225.1:c.*1216A>C	ENSP00000490797.1:n.*1216A>C
ENST00000636286.1:n.990A>C
ENST00000636482.1:n.759A>C
ENST00000636743.1:c.1152A>C	ENSP00000489725.1:p.Ala384=
ENST00000636808.1:c.*1081A>C	ENSP00000490833.1:n.*1081A>C
ENST00000636872.1:c.1432A>C	ENSP00000490919.1:n.1432A>C
ENST00000636879.1:c.1317A>C	ENSP00000490811.1:p.Ala439=
ENST00000636886.1:c.1071A>C	ENSP00000490371.1:p.Ala357=
ENST00000637206.1:c.1092A>C	ENSP00000489895.1:p.Ala364=
ENST00000637272.1:c.1263A>C	ENSP00000489686.1:p.Ala421=
ENST00000637292.1:c.774-1773A>C
ENST00000637782.1:c.1272A>C	ENSP00000490024.1:p.Ala424=
ENST00000638008.1:c.*1116A>C	ENSP00000490400.1:n.*1116A>C
ENST00000638010.1:n.1218A>C
ENST00000409134.7:c.1272A>C	ENSP00000387123.3:p.Ala424=
ENST00000447989.6:c.1161A>C	ENSP00000414132.2:p.Ala387=
ENST00000476328.1:n.37A>C
ENST00000497231.6:n.1482A>C
ENST00000503281.5:c.861A>C
ENST00000553117.5:c.1080A>C	ENSP00000448593.1:p.Ala360=
NM_001182.4:c.1272A>C	NP_001173.2:p.Ala424=
NM_001201377.1:c.1188A>C	NP_001188306.1:p.Ala396=
NM_001202404.1:c.1161A>C	NP_001189333.1:p.Ala387=
XM_011543417.1:c.867A>C	XP_011541719.1:p.Ala289=
XM_011543417.2:c.867A>C	XP_011541719.1:p.Ala289=
NM_001182.5:c.1272A>C MANE Select	NP_001173.2:p.Ala424=
NM_001201377.2:c.1188A>C	NP_001188306.1:p.Ala396=
NM_001202404.2:c.1080A>C	NP_001189333.2:p.Ala360=