Canonical Allele Identifier: CA2579371058

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646943G>C , CM000671.2:g.34646943G>C	GRCh38
NC_000009.11:g.34646940G>C , CM000671.1:g.34646940G>C	GRCh37
NC_000009.10:g.34636940G>C	NCBI36
NG_009029.1:g.5306G>C
NG_009029.2:g.5355G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.83-146G>C	ENSP00000509954.1:n.83-146G>C
ENST00000378842.8:c.83-146G>C MANE Select	ENSP00000368119.4:n.83-146G>C
ENST00000378842.7:c.83-146G>C	ENSP00000368119.3:n.83-146G>C
ENST00000450095.6:c.-120-146G>C	ENSP00000401956.2:n.-120-146G>C
ENST00000465543.6:n.276G>C
ENST00000468099.2:n.154+157G>C
ENST00000472111.5:n.124-146G>C
ENST00000473506.6:c.83-146G>C	ENSP00000432839.2:n.83-146G>C
ENST00000473529.5:n.130-146G>C
ENST00000485531.1:n.75+24G>C
ENST00000487381.5:n.109-146G>C
ENST00000489643.6:n.113-146G>C
ENST00000554085.5:c.83-146G>C	ENSP00000450419.1:n.83-146G>C
ENST00000554139.5:n.136-146G>C
ENST00000554330.5:n.79+76G>C
ENST00000554550.5:c.83-146G>C	ENSP00000451435.1:n.83-146G>C
ENST00000554638.5:n.107-146G>C
ENST00000554897.5:c.83-146G>C	ENSP00000450942.1:n.83-146G>C
ENST00000554944.5:n.113-146G>C
ENST00000555020.5:n.113-146G>C
ENST00000555086.5:n.86+76G>C
ENST00000555214.5:n.92-146G>C
ENST00000556157.1:n.44G>C
ENST00000556278.1:c.83-146G>C	ENSP00000451792.1:n.83-146G>C
ENST00000556403.5:n.95+76G>C
ENST00000556494.5:n.114+24G>C
ENST00000557541.5:n.275+24G>C
ENST00000557706.5:n.51G>C
ENST00000605275.1:n.475G>C
NM_000155.3:c.83-146G>C	NP_000146.2:n.83-146G>C
NM_001258332.1:c.-120-146G>C	NP_001245261.1:n.-120-146G>C
NM_000155.4:c.83-146G>C MANE Select	NP_000146.2:n.83-146G>C
NM_001258332.2:c.-120-146G>C	NP_001245261.1:n.-120-146G>C