Canonical Allele Identifier: CA259388
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033687
gnomAD v4: 9-34647870-T-C
MyVariant Identifiers: chr9:g.34647867T>C (hg19) chr9:g.34647870T>C (hg38)
PubMed: PMID:1427861
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647870T>C , CM000671.2:g.34647870T>C GRCh38
NC_000009.11:g.34647867T>C , CM000671.1:g.34647867T>C GRCh37
NC_000009.10:g.34637867T>C NCBI36
NG_009029.1:g.6233T>C
NG_028966.1:g.686T>C
NG_009029.2:g.6282T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*4T>C ENSP00000509954.1:n.*4T>C
ENST00000378842.8:c.416T>C MANE Select ENSP00000368119.4:p.Leu139Pro
ENST00000378842.7:c.416T>C ENSP00000368119.3:p.Leu139Pro
ENST00000450095.6:c.89T>C ENSP00000401956.2:p.Leu30Pro
ENST00000465543.6:n.755T>C
ENST00000472111.5:n.672T>C
ENST00000473506.6:c.*4T>C ENSP00000432839.2:n.*4T>C
ENST00000473529.5:n.552T>C
ENST00000485531.1:n.857T>C
ENST00000487381.5:n.801T>C
ENST00000489643.6:n.283-245T>C
ENST00000554085.5:c.*160T>C ENSP00000450419.1:n.*160T>C
ENST00000554139.5:n.595T>C
ENST00000554550.5:c.*36T>C ENSP00000451435.1:n.*36T>C
ENST00000554638.5:n.888T>C
ENST00000554897.5:c.*36T>C ENSP00000450942.1:n.*36T>C
ENST00000554944.5:n.612T>C
ENST00000555020.5:n.572T>C
ENST00000555086.5:n.420T>C
ENST00000555214.5:n.262-178T>C
ENST00000556244.1:c.403T>C
ENST00000556278.1:c.253-245T>C ENSP00000451792.1:n.253-245T>C
ENST00000556494.5:n.537T>C
ENST00000557541.5:n.560T>C
ENST00000557706.5:n.978T>C
NM_000155.3:c.416T>C NP_000146.2:p.Leu139Pro
NM_001258332.1:c.89T>C NP_001245261.1:p.Leu30Pro
NM_000155.4:c.416T>C MANE Select NP_000146.2:p.Leu139Pro
NM_001258332.2:c.89T>C NP_001245261.1:p.Leu30Pro
Search 100 bp 5'
Search 100 bp 3'