Canonical Allele Identifier: CA259355
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 25146
ClinVar RCV Id: RCV000022077
dbSNP Id: rs111033669

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647529A>G , CM000671.2:g.34647529A>G GRCh38
NC_000009.11:g.34647526A>G , CM000671.1:g.34647526A>G GRCh37
NC_000009.10:g.34637526A>G NCBI36
NG_009029.1:g.5892A>G
NG_028966.1:g.345A>G
NG_009029.2:g.5941A>G

Transcript Alleles

HGVS Amino-acid change
NM_000155.3:c.290A>G VV NP_000146.2:p.Asn97Ser
NM_001258332.1:c.50+271A>G VV NP_001245261.1:p.=
ENST00000378842.7:c.290A>G ENSP00000368119.3:p.Asn97Ser
ENST00000450095.6:c.50+271A>G ENSP00000401956.2:p.=
ENST00000465543.6:n.629A>G
ENST00000472111.5:n.331A>G
ENST00000473506.6:c.253-12A>G ENSP00000432839.2:p.=
ENST00000473529.5:n.337A>G
ENST00000485531.1:n.516A>G
ENST00000487381.5:n.549A>G
ENST00000489643.6:n.282+271A>G
ENST00000554085.5:c.*34A>G ENSP00000450419.1:p.=
ENST00000554139.5:n.343A>G
ENST00000554330.5:n.250-12A>G
ENST00000554550.5:c.252+271A>G ENSP00000451435.1:p.=
ENST00000554638.5:n.547A>G
ENST00000554897.5:c.252+271A>G ENSP00000450942.1:p.=
ENST00000554944.5:n.283-12A>G
ENST00000555020.5:n.320A>G
ENST00000555086.5:n.294A>G
ENST00000555214.5:n.261+271A>G
ENST00000556157.1:n.414A>G
ENST00000556244.1:n.277A>G
ENST00000556278.1:c.252+271A>G ENSP00000451792.1:p.=
ENST00000556403.5:n.303A>G
ENST00000556494.5:n.322A>G
ENST00000557541.5:n.446-12A>G
ENST00000557706.5:n.637A>G