Canonical Allele Identifier: CA1845640702
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 2907370
ClinVar RCV Id: RCV003609716
dbSNP Id: rs1821188362

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649096G>A , CM000671.2:g.34649096G>A GRCh38
NC_000009.11:g.34649093G>A , CM000671.1:g.34649093G>A GRCh37
NC_000009.10:g.34639093G>A NCBI36
NG_009029.1:g.7459G>A
NG_028966.1:g.1912G>A
NG_009029.2:g.7508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*492+15G>A ENSP00000509954.1:n.*492+15G>A
ENST00000378842.8:c.904+15G>A MANE Select ENSP00000368119.4:n.904+15G>A
ENST00000378842.7:c.904+15G>A ENSP00000368119.3:n.904+15G>A
ENST00000450095.6:c.577+15G>A ENSP00000401956.2:n.577+15G>A
ENST00000488412.2:n.175G>A
ENST00000489643.6:n.999G>A
ENST00000554550.5:c.*524+15G>A ENSP00000451435.1:n.*524+15G>A
ENST00000554638.5:n.1376+15G>A
ENST00000555020.5:n.1380G>A
ENST00000555086.5:n.1026G>A
ENST00000555754.1:n.352+15G>A
ENST00000556278.1:c.432+640G>A ENSP00000451792.1:n.432+640G>A
ENST00000557706.5:n.1479+15G>A
NM_000155.3:c.904+15G>A NP_000146.2:n.904+15G>A
NM_001258332.1:c.577+15G>A NP_001245261.1:n.577+15G>A
NM_000155.4:c.904+15G>A MANE Select NP_000146.2:n.904+15G>A
NM_001258332.2:c.577+15G>A NP_001245261.1:n.577+15G>A