Canonical Allele Identifier: CA373282196

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648410A>T (hg19) ; chr9:g.34648413A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648413A>T , CM000671.2:g.34648413A>T	GRCh38
NC_000009.11:g.34648410A>T , CM000671.1:g.34648410A>T	GRCh37
NC_000009.10:g.34638410A>T	NCBI36
NG_009029.1:g.6776A>T
NG_028966.1:g.1229A>T
NG_009029.2:g.6825A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*232A>T	ENSP00000509954.1:n.*232A>T
ENST00000378842.8:c.644A>T MANE Select	ENSP00000368119.4:p.Glu215Val
ENST00000378842.7:c.644A>T	ENSP00000368119.3:p.Glu215Val
ENST00000450095.6:c.317A>T	ENSP00000401956.2:p.Glu106Val
ENST00000472111.5:n.900A>T
ENST00000473506.6:c.*232A>T	ENSP00000432839.2:n.*232A>T
ENST00000473529.5:n.803A>T
ENST00000487381.5:n.1029A>T
ENST00000489643.6:n.419A>T
ENST00000554085.5:c.*388A>T	ENSP00000450419.1:n.*388A>T
ENST00000554550.5:c.*264A>T	ENSP00000451435.1:n.*264A>T
ENST00000554638.5:n.1116A>T
ENST00000555020.5:n.800A>T
ENST00000555086.5:n.648A>T
ENST00000555214.5:n.465A>T
ENST00000556244.1:c.631A>T
ENST00000556278.1:c.389A>T	ENSP00000451792.1:p.Glu130Val
ENST00000556494.5:n.765A>T
ENST00000557706.5:n.1206A>T
NM_000155.3:c.644A>T	NP_000146.2:p.Glu215Val
NM_001258332.1:c.317A>T	NP_001245261.1:p.Glu106Val
NM_000155.4:c.644A>T MANE Select	NP_000146.2:p.Glu215Val
NM_001258332.2:c.317A>T	NP_001245261.1:p.Glu106Val