Canonical Allele Identifier: CA446280560

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2994045
• ClinVar RCV Id: RCV003855684
• gnomAD v4: 5-126552060-T-C
• MyVariant Identifiers: chr5:g.125887752T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552060T>C , CM000667.2:g.126552060T>C	GRCh38
NC_000005.9:g.125887752T>C , CM000667.1:g.125887752T>C	GRCh37
NC_000005.8:g.125915651T>C	NCBI36
NG_008600.2:g.48331A>G
NG_008600.3:g.48331A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1278A>G MANE Select	ENSP00000387123.3:p.Thr426=
ENST00000458249.6:c.*1187A>G	ENSP00000403929.1:n.*1187A>G
ENST00000497231.7:n.1705A>G
ENST00000503281.6:c.867A>G
ENST00000635851.1:c.1276A>G
ENST00000636062.1:n.1173A>G
ENST00000636225.1:c.*1222A>G	ENSP00000490797.1:n.*1222A>G
ENST00000636286.1:n.996A>G
ENST00000636482.1:n.765A>G
ENST00000636743.1:c.1158A>G	ENSP00000489725.1:p.Thr386=
ENST00000636808.1:c.*1087A>G	ENSP00000490833.1:n.*1087A>G
ENST00000636872.1:c.1438A>G	ENSP00000490919.1:n.1438A>G
ENST00000636879.1:c.1323A>G	ENSP00000490811.1:p.Thr441=
ENST00000636886.1:c.1077A>G	ENSP00000490371.1:p.Thr359=
ENST00000637206.1:c.1098A>G	ENSP00000489895.1:p.Thr366=
ENST00000637272.1:c.1269A>G	ENSP00000489686.1:p.Thr423=
ENST00000637292.1:c.774-1767A>G
ENST00000637782.1:c.1278A>G	ENSP00000490024.1:p.Thr426=
ENST00000638008.1:c.*1122A>G	ENSP00000490400.1:n.*1122A>G
ENST00000638010.1:n.1224A>G
ENST00000409134.7:c.1278A>G	ENSP00000387123.3:p.Thr426=
ENST00000447989.6:c.1167A>G	ENSP00000414132.2:p.Thr389=
ENST00000476328.1:n.43A>G
ENST00000497231.6:n.1488A>G
ENST00000503281.5:c.867A>G
ENST00000553117.5:c.1086A>G	ENSP00000448593.1:p.Thr362=
NM_001182.4:c.1278A>G	NP_001173.2:p.Thr426=
NM_001201377.1:c.1194A>G	NP_001188306.1:p.Thr398=
NM_001202404.1:c.1167A>G	NP_001189333.1:p.Thr389=
XM_011543417.1:c.873A>G	XP_011541719.1:p.Thr291=
XM_011543417.2:c.873A>G	XP_011541719.1:p.Thr291=
NM_001182.5:c.1278A>G MANE Select	NP_001173.2:p.Thr426=
NM_001201377.2:c.1194A>G	NP_001188306.1:p.Thr398=
NM_001202404.2:c.1086A>G	NP_001189333.2:p.Thr362=