Canonical Allele Identifier: CA1845639667

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648819T= , CM000671.2:g.34648819T=	GRCh38
NC_000009.11:g.34648816T= , CM000671.1:g.34648816T=	GRCh37
NC_000009.10:g.34638816T=	NCBI36
NG_009029.1:g.7182T=
NG_028966.1:g.1635T=
NG_009029.2:g.7231T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*333T=	ENSP00000509954.1:n.*333T=
ENST00000378842.8:c.745T= MANE Select	ENSP00000368119.4:p.Trp249=
ENST00000378842.7:c.745T=	ENSP00000368119.3:p.Trp249=
ENST00000450095.6:c.418T=	ENSP00000401956.2:p.Trp140=
ENST00000473506.6:c.*333T=	ENSP00000432839.2:n.*333T=
ENST00000473529.5:n.904T=
ENST00000487381.5:n.1435T=
ENST00000489643.6:n.825T=
ENST00000554085.5:c.*489T=	ENSP00000450419.1:n.*489T=
ENST00000554550.5:c.*365T=	ENSP00000451435.1:n.*365T=
ENST00000554638.5:n.1217T=
ENST00000555020.5:n.1206T=
ENST00000555086.5:n.749T=
ENST00000555754.1:n.90T=
ENST00000556244.1:c.732T=
ENST00000556278.1:c.432+363T=	ENSP00000451792.1:n.432+363T=
ENST00000557706.5:n.1307T=
NM_000155.3:c.745T=	NP_000146.2:p.Trp249=
NM_001258332.1:c.418T=	NP_001245261.1:p.Trp140=
NM_000155.4:c.745T= MANE Select	NP_000146.2:p.Trp249=
NM_001258332.2:c.418T=	NP_001245261.1:p.Trp140=