Canonical Allele Identifier: CA353731
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 459627
dbSNP Id: rs367543270

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648864_34648866delinsTAG , CM000671.2:g.34648864_34648866delinsTAG GRCh38
NC_000009.11:g.34648861_34648863delinsTAG , CM000671.1:g.34648861_34648863delinsTAG GRCh37
NC_000009.10:g.34638861_34638863delinsTAG NCBI36
NG_009029.1:g.7227_7229delinsTAG
NG_028966.1:g.1680_1682delinsTAG
NG_009029.2:g.7276_7278delinsTAG

Transcript Alleles

HGVS Amino-acid change
ENST00000378842.8:c.790_792delinsTAG MANE Select ENSP00000368119.4:p.Leu264Ter
ENST00000378842.7:c.790_792delinsTAG ENSP00000368119.3:p.Leu264Ter
ENST00000450095.6:c.463_465delinsTAG ENSP00000401956.2:p.Leu155Ter
ENST00000473506.6:c.*378_*380delinsTAG ENSP00000432839.2:p.=
ENST00000489643.6:n.870_872delinsTAG
ENST00000554085.5:c.*534_*536delinsTAG ENSP00000450419.1:p.=
ENST00000554550.5:c.*410_*412delinsTAG ENSP00000451435.1:p.=
ENST00000554638.5:n.1262_1264delinsTAG
ENST00000555020.5:n.1251_1253delinsTAG
ENST00000555086.5:n.794_796delinsTAG
ENST00000555754.1:n.135_137delinsTAG
ENST00000556244.1:n.777_779delinsTAG
ENST00000556278.1:c.432+408_432+410delinsTAG ENSP00000451792.1:p.=
ENST00000557706.5:n.1352_1354delinsTAG
NM_000155.3:c.790_792delinsTAG NP_000146.2:p.Leu264Ter
NM_001258332.1:c.463_465delinsTAG NP_001245261.1:p.Leu155Ter
NM_000155.4:c.790_792delinsTAG MANE Select NP_000146.2:p.Leu264Ter
NM_001258332.2:c.463_465delinsTAG NP_001245261.1:p.Leu155Ter