Canonical Allele Identifier: CA1845637980

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648119T= , CM000671.2:g.34648119T=	GRCh38
NC_000009.11:g.34648116T= , CM000671.1:g.34648116T=	GRCh37
NC_000009.10:g.34638116T=	NCBI36
NG_009029.1:g.6482T=
NG_028966.1:g.935T=
NG_009029.2:g.6531T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.512T= MANE Select	NP_000146.2:p.Phe171=
ENST00000378842.8:c.512T= MANE Select	ENSP00000368119.4:p.Phe171=
NM_000155.3:c.512T=	NP_000146.2:p.Phe171=
NM_001258332.1:c.185T=	NP_001245261.1:p.Phe62=
NM_001258332.2:c.185T=	NP_001245261.1:p.Phe62=
ENST00000378842.7:c.512T=	ENSP00000368119.3:p.Phe171=
ENST00000450095.6:c.185T=	ENSP00000401956.2:p.Phe62=
ENST00000465543.6:n.851T=
ENST00000472111.5:n.768T=
ENST00000473506.6:c.*100T=	ENSP00000432839.2:n.*100T=
ENST00000473529.5:n.671T=
ENST00000485531.1:n.1106T=
ENST00000487381.5:n.897T=
ENST00000489643.6:n.287T=
ENST00000554085.5:c.*256T=	ENSP00000450419.1:n.*256T=
ENST00000554139.5:n.758T=
ENST00000554550.5:c.*132T=	ENSP00000451435.1:n.*132T=
ENST00000554638.5:n.984T=
ENST00000554897.5:c.*199T=	ENSP00000450942.1:n.*199T=
ENST00000554944.5:n.861T=
ENST00000555020.5:n.668T=
ENST00000555086.5:n.516T=
ENST00000555214.5:n.333T=
ENST00000556244.1:c.499T=
ENST00000556278.1:c.257T=	ENSP00000451792.1:p.Phe86=
ENST00000556494.5:n.633T=
ENST00000557706.5:n.1074T=
ENST00000691183.1:c.*100T=	ENSP00000509954.1:n.*100T=