Canonical Allele Identifier: CA373280643

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647853G>C (hg19) ; chr9:g.34647856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647856G>C , CM000671.2:g.34647856G>C	GRCh38
NC_000009.11:g.34647853G>C , CM000671.1:g.34647853G>C	GRCh37
NC_000009.10:g.34637853G>C	NCBI36
NG_009029.1:g.6219G>C
NG_028966.1:g.672G>C
NG_009029.2:g.6268G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.353G>C	ENSP00000509954.1:p.Gly118Ala
ENST00000378842.8:c.402G>C MANE Select	ENSP00000368119.4:p.Trp134Cys
ENST00000378842.7:c.402G>C	ENSP00000368119.3:p.Trp134Cys
ENST00000450095.6:c.75G>C	ENSP00000401956.2:p.Trp25Cys
ENST00000465543.6:n.741G>C
ENST00000472111.5:n.658G>C
ENST00000473506.6:c.353G>C	ENSP00000432839.2:p.Gly118Ala
ENST00000473529.5:n.538G>C
ENST00000485531.1:n.843G>C
ENST00000487381.5:n.787G>C
ENST00000489643.6:n.283-259G>C
ENST00000554085.5:c.*146G>C	ENSP00000450419.1:n.*146G>C
ENST00000554139.5:n.581G>C
ENST00000554550.5:c.*22G>C	ENSP00000451435.1:n.*22G>C
ENST00000554638.5:n.874G>C
ENST00000554897.5:c.*22G>C	ENSP00000450942.1:n.*22G>C
ENST00000554944.5:n.598G>C
ENST00000555020.5:n.558G>C
ENST00000555086.5:n.406G>C
ENST00000555214.5:n.262-192G>C
ENST00000556244.1:c.389G>C
ENST00000556278.1:c.253-259G>C	ENSP00000451792.1:n.253-259G>C
ENST00000556494.5:n.523G>C
ENST00000557541.5:n.546G>C
ENST00000557706.5:n.964G>C
NM_000155.3:c.402G>C	NP_000146.2:p.Trp134Cys
NM_001258332.1:c.75G>C	NP_001245261.1:p.Trp25Cys
NM_000155.4:c.402G>C MANE Select	NP_000146.2:p.Trp134Cys
NM_001258332.2:c.75G>C	NP_001245261.1:p.Trp25Cys