Canonical Allele Identifier: CA373281536

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648142G>C , CM000671.2:g.34648142G>C	GRCh38
NC_000009.11:g.34648139G>C , CM000671.1:g.34648139G>C	GRCh37
NC_000009.10:g.34638139G>C	NCBI36
NG_009029.1:g.6505G>C
NG_028966.1:g.958G>C
NG_009029.2:g.6554G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.535G>C MANE Select	NP_000146.2:p.Gly179Arg
ENST00000378842.8:c.535G>C MANE Select	ENSP00000368119.4:p.Gly179Arg
NM_000155.3:c.535G>C	NP_000146.2:p.Gly179Arg
NM_001258332.1:c.208G>C	NP_001245261.1:p.Gly70Arg
NM_001258332.2:c.208G>C	NP_001245261.1:p.Gly70Arg
ENST00000378842.7:c.535G>C	ENSP00000368119.3:p.Gly179Arg
ENST00000450095.6:c.208G>C	ENSP00000401956.2:p.Gly70Arg
ENST00000465543.6:n.874G>C
ENST00000472111.5:n.791G>C
ENST00000473506.6:c.*123G>C	ENSP00000432839.2:n.*123G>C
ENST00000473529.5:n.694G>C
ENST00000485531.1:n.1129G>C
ENST00000487381.5:n.920G>C
ENST00000489643.6:n.310G>C
ENST00000554085.5:c.*279G>C	ENSP00000450419.1:n.*279G>C
ENST00000554139.5:n.781G>C
ENST00000554550.5:c.*155G>C	ENSP00000451435.1:n.*155G>C
ENST00000554638.5:n.1007G>C
ENST00000554897.5:c.*222G>C	ENSP00000450942.1:n.*222G>C
ENST00000554944.5:n.884G>C
ENST00000555020.5:n.691G>C
ENST00000555086.5:n.539G>C
ENST00000555214.5:n.356G>C
ENST00000556244.1:c.522G>C
ENST00000556278.1:c.280G>C	ENSP00000451792.1:p.Gly94Arg
ENST00000556494.5:n.656G>C
ENST00000557706.5:n.1097G>C
ENST00000691183.1:c.*123G>C	ENSP00000509954.1:n.*123G>C