Canonical Allele Identifier: CA1845637055

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647850C= , CM000671.2:g.34647850C=	GRCh38
NC_000009.11:g.34647847C= , CM000671.1:g.34647847C=	GRCh37
NC_000009.10:g.34637847C=	NCBI36
NG_009029.1:g.6213C=
NG_028966.1:g.666C=
NG_009029.2:g.6262C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.347C=	ENSP00000509954.1:p.Thr116=
ENST00000378842.8:c.396C= MANE Select	ENSP00000368119.4:p.His132=
ENST00000378842.7:c.396C=	ENSP00000368119.3:p.His132=
ENST00000450095.6:c.69C=	ENSP00000401956.2:p.His23=
ENST00000465543.6:n.735C=
ENST00000472111.5:n.652C=
ENST00000473506.6:c.347C=	ENSP00000432839.2:p.Thr116=
ENST00000473529.5:n.532C=
ENST00000485531.1:n.837C=
ENST00000487381.5:n.781C=
ENST00000489643.6:n.283-265C=
ENST00000554085.5:c.*140C=	ENSP00000450419.1:n.*140C=
ENST00000554139.5:n.575C=
ENST00000554550.5:c.*16C=	ENSP00000451435.1:n.*16C=
ENST00000554638.5:n.868C=
ENST00000554897.5:c.*16C=	ENSP00000450942.1:n.*16C=
ENST00000554944.5:n.592C=
ENST00000555020.5:n.552C=
ENST00000555086.5:n.400C=
ENST00000555214.5:n.262-198C=
ENST00000556244.1:c.383C=
ENST00000556278.1:c.253-265C=	ENSP00000451792.1:n.253-265C=
ENST00000556494.5:n.517C=
ENST00000557541.5:n.540C=
ENST00000557706.5:n.958C=
NM_000155.3:c.396C=	NP_000146.2:p.His132=
NM_001258332.1:c.69C=	NP_001245261.1:p.His23=
NM_000155.4:c.396C= MANE Select	NP_000146.2:p.His132=
NM_001258332.2:c.69C=	NP_001245261.1:p.His23=