Canonical Allele Identifier: CA373278378
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646775T>C , CM000671.2:g.34646775T>C GRCh38
NC_000009.11:g.34646772T>C , CM000671.1:g.34646772T>C GRCh37
NC_000009.10:g.34636772T>C NCBI36
NG_009029.1:g.5138T>C
NG_009029.2:g.5187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.71T>C ENSP00000509954.1:p.Phe24Ser
ENST00000378842.8:c.71T>C MANE Select ENSP00000368119.4:p.Phe24Ser
ENST00000378842.7:c.71T>C ENSP00000368119.3:p.Phe24Ser
ENST00000450095.6:c.-132T>C ENSP00000401956.2:n.-132T>C
ENST00000465543.6:n.108T>C
ENST00000468099.2:n.143T>C
ENST00000472111.5:n.112T>C
ENST00000473506.6:c.71T>C ENSP00000432839.2:p.Phe24Ser
ENST00000473529.5:n.118T>C
ENST00000487381.5:n.97T>C
ENST00000489643.6:n.101T>C
ENST00000554085.5:c.71T>C ENSP00000450419.1:p.Phe24Ser
ENST00000554139.5:n.124T>C
ENST00000554550.5:c.71T>C ENSP00000451435.1:p.Phe24Ser
ENST00000554638.5:n.95T>C
ENST00000554897.5:c.71T>C ENSP00000450942.1:p.Phe24Ser
ENST00000554944.5:n.101T>C
ENST00000555020.5:n.101T>C
ENST00000555214.5:n.80T>C
ENST00000556278.1:c.71T>C ENSP00000451792.1:p.Phe24Ser
ENST00000556403.5:n.3T>C
ENST00000557541.5:n.131T>C
ENST00000605275.1:n.307T>C
NM_000155.3:c.71T>C NP_000146.2:p.Phe24Ser
NM_001258332.1:c.-132T>C NP_001245261.1:n.-132T>C
NM_000155.4:c.71T>C MANE Select NP_000146.2:p.Phe24Ser
NM_001258332.2:c.-132T>C NP_001245261.1:n.-132T>C