Canonical Allele Identifier: CA373278637
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647164G>C , CM000671.2:g.34647164G>C GRCh38
NC_000009.11:g.34647161G>C , CM000671.1:g.34647161G>C GRCh37
NC_000009.10:g.34637161G>C NCBI36
NG_009029.1:g.5527G>C
NG_009029.2:g.5576G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.158G>C ENSP00000509954.1:p.Trp53Ser
ENST00000378842.8:c.158G>C MANE Select ENSP00000368119.4:p.Trp53Ser
ENST00000378842.7:c.158G>C ENSP00000368119.3:p.Trp53Ser
ENST00000450095.6:c.-45G>C ENSP00000401956.2:n.-45G>C
ENST00000465543.6:n.497G>C
ENST00000468099.2:n.198G>C
ENST00000472111.5:n.199G>C
ENST00000473506.6:c.158G>C ENSP00000432839.2:p.Trp53Ser
ENST00000473529.5:n.205G>C
ENST00000485531.1:n.151G>C
ENST00000487381.5:n.184G>C
ENST00000489643.6:n.188G>C
ENST00000554085.5:c.158G>C ENSP00000450419.1:p.Trp53Ser
ENST00000554139.5:n.211G>C
ENST00000554330.5:n.155G>C
ENST00000554550.5:c.158G>C ENSP00000451435.1:p.Trp53Ser
ENST00000554638.5:n.182G>C
ENST00000554897.5:c.158G>C ENSP00000450942.1:p.Trp53Ser
ENST00000554944.5:n.188G>C
ENST00000555020.5:n.188G>C
ENST00000555086.5:n.162G>C
ENST00000555214.5:n.167G>C
ENST00000556157.1:n.265G>C
ENST00000556244.1:c.42G>C
ENST00000556278.1:c.158G>C ENSP00000451792.1:p.Trp53Ser
ENST00000556403.5:n.171G>C
ENST00000556494.5:n.190G>C
ENST00000557541.5:n.351G>C
ENST00000557706.5:n.272G>C
NM_000155.3:c.158G>C NP_000146.2:p.Trp53Ser
NM_001258332.1:c.-45G>C NP_001245261.1:n.-45G>C
NM_000155.4:c.158G>C MANE Select NP_000146.2:p.Trp53Ser
NM_001258332.2:c.-45G>C NP_001245261.1:n.-45G>C