Canonical Allele Identifier: CA3389468

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 388119
• ClinVar RCV Id: RCV000417460 ; RCV000814956
• dbSNP Id: rs150305320
• ExAC: 5:125887754 T / C
• gnomAD v2: 5-125887754-T-C
• gnomAD v3: 5-126552062-T-C
• gnomAD v4: 5-126552062-T-C
• MyVariant Identifiers: chr5:g.125887754T>C (hg19) ; chr5:g.126552062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552062T>C , CM000667.2:g.126552062T>C	GRCh38
NC_000005.9:g.125887754T>C , CM000667.1:g.125887754T>C	GRCh37
NC_000005.8:g.125915653T>C	NCBI36
NG_008600.2:g.48329A>G
NG_008600.3:g.48329A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1276A>G MANE Select	ENSP00000387123.3:p.Thr426Ala
ENST00000458249.6:c.*1185A>G	ENSP00000403929.1:n.*1185A>G
ENST00000497231.7:n.1703A>G
ENST00000503281.6:c.865A>G
ENST00000635851.1:c.1274A>G
ENST00000636062.1:n.1171A>G
ENST00000636225.1:c.*1220A>G	ENSP00000490797.1:n.*1220A>G
ENST00000636286.1:n.994A>G
ENST00000636482.1:n.763A>G
ENST00000636743.1:c.1156A>G	ENSP00000489725.1:p.Thr386Ala
ENST00000636808.1:c.*1085A>G	ENSP00000490833.1:n.*1085A>G
ENST00000636872.1:c.1436A>G	ENSP00000490919.1:n.1436A>G
ENST00000636879.1:c.1321A>G	ENSP00000490811.1:p.Thr441Ala
ENST00000636886.1:c.1075A>G	ENSP00000490371.1:p.Thr359Ala
ENST00000637206.1:c.1096A>G	ENSP00000489895.1:p.Thr366Ala
ENST00000637272.1:c.1267A>G	ENSP00000489686.1:p.Thr423Ala
ENST00000637292.1:c.774-1769A>G
ENST00000637782.1:c.1276A>G	ENSP00000490024.1:p.Thr426Ala
ENST00000638008.1:c.*1120A>G	ENSP00000490400.1:n.*1120A>G
ENST00000638010.1:n.1222A>G
ENST00000409134.7:c.1276A>G	ENSP00000387123.3:p.Thr426Ala
ENST00000447989.6:c.1165A>G	ENSP00000414132.2:p.Thr389Ala
ENST00000476328.1:n.41A>G
ENST00000497231.6:n.1486A>G
ENST00000503281.5:c.865A>G
ENST00000553117.5:c.1084A>G	ENSP00000448593.1:p.Thr362Ala
NM_001182.4:c.1276A>G	NP_001173.2:p.Thr426Ala
NM_001201377.1:c.1192A>G	NP_001188306.1:p.Thr398Ala
NM_001202404.1:c.1165A>G	NP_001189333.1:p.Thr389Ala
XM_011543417.1:c.871A>G	XP_011541719.1:p.Thr291Ala
XM_011543417.2:c.871A>G	XP_011541719.1:p.Thr291Ala
NM_001182.5:c.1276A>G MANE Select	NP_001173.2:p.Thr426Ala
NM_001201377.2:c.1192A>G	NP_001188306.1:p.Thr398Ala
NM_001202404.2:c.1084A>G	NP_001189333.2:p.Thr362Ala