Canonical Allele Identifier: CA1845639022

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648445C= , CM000671.2:g.34648445C=	GRCh38
NC_000009.11:g.34648442C= , CM000671.1:g.34648442C=	GRCh37
NC_000009.10:g.34638442C=	NCBI36
NG_009029.1:g.6808C=
NG_028966.1:g.1261C=
NG_009029.2:g.6857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*264C=	ENSP00000509954.1:n.*264C=
ENST00000378842.8:c.676C= MANE Select	ENSP00000368119.4:p.Leu226=
ENST00000378842.7:c.676C=	ENSP00000368119.3:p.Leu226=
ENST00000450095.6:c.349C=	ENSP00000401956.2:p.Leu117=
ENST00000472111.5:n.932C=
ENST00000473506.6:c.*264C=	ENSP00000432839.2:n.*264C=
ENST00000473529.5:n.835C=
ENST00000487381.5:n.1061C=
ENST00000489643.6:n.451C=
ENST00000554085.5:c.*420C=	ENSP00000450419.1:n.*420C=
ENST00000554550.5:c.*296C=	ENSP00000451435.1:n.*296C=
ENST00000554638.5:n.1148C=
ENST00000555020.5:n.832C=
ENST00000555086.5:n.680C=
ENST00000555214.5:n.497C=
ENST00000555754.1:n.21C=
ENST00000556244.1:c.663C=
ENST00000556278.1:c.421C=	ENSP00000451792.1:p.Leu141=
ENST00000556494.5:n.797C=
ENST00000557706.5:n.1238C=
NM_000155.3:c.676C=	NP_000146.2:p.Leu226=
NM_001258332.1:c.349C=	NP_001245261.1:p.Leu117=
NM_000155.4:c.676C= MANE Select	NP_000146.2:p.Leu226=
NM_001258332.2:c.349C=	NP_001245261.1:p.Leu117=