Canonical Allele Identifier: CA259378

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647840T>C , CM000671.2:g.34647840T>C	GRCh38
NC_000009.11:g.34647837T>C , CM000671.1:g.34647837T>C	GRCh37
NC_000009.10:g.34637837T>C	NCBI36
NG_009029.1:g.6203T>C
NG_028966.1:g.656T>C
NG_009029.2:g.6252T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.386T>C MANE Select	NP_000146.2:p.Met129Thr
ENST00000378842.8:c.386T>C MANE Select	ENSP00000368119.4:p.Met129Thr
NM_000155.3:c.386T>C	NP_000146.2:p.Met129Thr
NM_001258332.1:c.59T>C	NP_001245261.1:p.Met20Thr
NM_001258332.2:c.59T>C	NP_001245261.1:p.Met20Thr
ENST00000378842.7:c.386T>C	ENSP00000368119.3:p.Met129Thr
ENST00000450095.6:c.59T>C	ENSP00000401956.2:p.Met20Thr
ENST00000465543.6:n.725T>C
ENST00000472111.5:n.642T>C
ENST00000473506.6:c.337T>C	ENSP00000432839.2:p.Cys113Arg
ENST00000473529.5:n.522T>C
ENST00000485531.1:n.827T>C
ENST00000487381.5:n.771T>C
ENST00000489643.6:n.283-275T>C
ENST00000554085.5:c.*130T>C	ENSP00000450419.1:n.*130T>C
ENST00000554139.5:n.565T>C
ENST00000554330.5:n.549T>C
ENST00000554550.5:c.*6T>C	ENSP00000451435.1:n.*6T>C
ENST00000554638.5:n.858T>C
ENST00000554897.5:c.*6T>C	ENSP00000450942.1:n.*6T>C
ENST00000554944.5:n.582T>C
ENST00000555020.5:n.542T>C
ENST00000555086.5:n.390T>C
ENST00000555214.5:n.262-208T>C
ENST00000556244.1:c.373T>C
ENST00000556278.1:c.253-275T>C	ENSP00000451792.1:n.253-275T>C
ENST00000556494.5:n.507T>C
ENST00000557541.5:n.530T>C
ENST00000557706.5:n.948T>C
ENST00000691183.1:c.337T>C	ENSP00000509954.1:p.Cys113Arg