Canonical Allele Identifier: CA259476
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033748
gnomAD v4: 9-34648458-T-C
MyVariant Identifiers: chr9:g.34648455T>C (hg19) chr9:g.34648458T>C (hg38)
PubMed: PMID:10408771
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648458T>C , CM000671.2:g.34648458T>C GRCh38
NC_000009.11:g.34648455T>C , CM000671.1:g.34648455T>C GRCh37
NC_000009.10:g.34638455T>C NCBI36
NG_009029.1:g.6821T>C
NG_028966.1:g.1274T>C
NG_009029.2:g.6870T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*275+2T>C ENSP00000509954.1:n.*275+2T>C
ENST00000378842.8:c.687+2T>C MANE Select ENSP00000368119.4:n.687+2T>C
ENST00000378842.7:c.687+2T>C ENSP00000368119.3:n.687+2T>C
ENST00000450095.6:c.360+2T>C ENSP00000401956.2:n.360+2T>C
ENST00000472111.5:n.945T>C
ENST00000473506.6:c.*275+2T>C ENSP00000432839.2:n.*275+2T>C
ENST00000473529.5:n.846+2T>C
ENST00000487381.5:n.1074T>C
ENST00000489643.6:n.464T>C
ENST00000554085.5:c.*431+2T>C ENSP00000450419.1:n.*431+2T>C
ENST00000554550.5:c.*307+2T>C ENSP00000451435.1:n.*307+2T>C
ENST00000554638.5:n.1159+2T>C
ENST00000555020.5:n.845T>C
ENST00000555086.5:n.691+2T>C
ENST00000555214.5:n.510T>C
ENST00000555754.1:n.32+2T>C
ENST00000556244.1:c.674+2T>C
ENST00000556278.1:c.432+2T>C ENSP00000451792.1:n.432+2T>C
ENST00000556494.5:n.810T>C
ENST00000557706.5:n.1249+2T>C
NM_000155.3:c.687+2T>C NP_000146.2:n.687+2T>C
NM_001258332.1:c.360+2T>C NP_001245261.1:n.360+2T>C
NM_000155.4:c.687+2T>C MANE Select NP_000146.2:n.687+2T>C
NM_001258332.2:c.360+2T>C NP_001245261.1:n.360+2T>C
Search 100 bp 5'
Search 100 bp 3'