Canonical Allele Identifier: CA1845636221

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647524T= , CM000671.2:g.34647524T=	GRCh38
NC_000009.11:g.34647521T= , CM000671.1:g.34647521T=	GRCh37
NC_000009.10:g.34637521T=	NCBI36
NG_009029.1:g.5887T=
NG_028966.1:g.340T=
NG_009029.2:g.5936T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.285T= MANE Select	NP_000146.2:p.Phe95=
ENST00000378842.8:c.285T= MANE Select	ENSP00000368119.4:p.Phe95=
NM_000155.3:c.285T=	NP_000146.2:p.Phe95=
NM_001258332.1:c.50+266T=	NP_001245261.1:n.50+266T=
NM_001258332.2:c.50+266T=	NP_001245261.1:n.50+266T=
ENST00000378842.7:c.285T=	ENSP00000368119.3:p.Phe95=
ENST00000450095.6:c.50+266T=	ENSP00000401956.2:n.50+266T=
ENST00000465543.6:n.624T=
ENST00000472111.5:n.326T=
ENST00000473506.6:c.253-17T=	ENSP00000432839.2:n.253-17T=
ENST00000473529.5:n.332T=
ENST00000485531.1:n.511T=
ENST00000487381.5:n.544T=
ENST00000489643.6:n.282+266T=
ENST00000554085.5:c.*29T=	ENSP00000450419.1:n.*29T=
ENST00000554139.5:n.338T=
ENST00000554330.5:n.250-17T=
ENST00000554550.5:c.252+266T=	ENSP00000451435.1:n.252+266T=
ENST00000554638.5:n.542T=
ENST00000554897.5:c.252+266T=	ENSP00000450942.1:n.252+266T=
ENST00000554944.5:n.283-17T=
ENST00000555020.5:n.315T=
ENST00000555086.5:n.289T=
ENST00000555214.5:n.261+266T=
ENST00000556157.1:n.409T=
ENST00000556244.1:c.272T=
ENST00000556278.1:c.252+266T=	ENSP00000451792.1:n.252+266T=
ENST00000556403.5:n.298T=
ENST00000556494.5:n.317T=
ENST00000557541.5:n.446-17T=
ENST00000557706.5:n.632T=
ENST00000691183.1:c.285T=	ENSP00000509954.1:p.Phe95=