Canonical Allele Identifier: CA373282017

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648375G>C (hg19) ; chr9:g.34648378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648378G>C , CM000671.2:g.34648378G>C	GRCh38
NC_000009.11:g.34648375G>C , CM000671.1:g.34648375G>C	GRCh37
NC_000009.10:g.34638375G>C	NCBI36
NG_009029.1:g.6741G>C
NG_028966.1:g.1194G>C
NG_009029.2:g.6790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*197G>C	ENSP00000509954.1:n.*197G>C
ENST00000378842.8:c.609G>C MANE Select	ENSP00000368119.4:p.Glu203Asp
ENST00000378842.7:c.609G>C	ENSP00000368119.3:p.Glu203Asp
ENST00000450095.6:c.282G>C	ENSP00000401956.2:p.Glu94Asp
ENST00000472111.5:n.865G>C
ENST00000473506.6:c.*197G>C	ENSP00000432839.2:n.*197G>C
ENST00000473529.5:n.768G>C
ENST00000487381.5:n.994G>C
ENST00000489643.6:n.384G>C
ENST00000554085.5:c.*353G>C	ENSP00000450419.1:n.*353G>C
ENST00000554139.5:n.855G>C
ENST00000554550.5:c.*229G>C	ENSP00000451435.1:n.*229G>C
ENST00000554638.5:n.1081G>C
ENST00000554944.5:n.958G>C
ENST00000555020.5:n.765G>C
ENST00000555086.5:n.613G>C
ENST00000555214.5:n.430G>C
ENST00000556244.1:c.596G>C
ENST00000556278.1:c.354G>C	ENSP00000451792.1:p.Glu118Asp
ENST00000556494.5:n.730G>C
ENST00000557706.5:n.1171G>C
NM_000155.3:c.609G>C	NP_000146.2:p.Glu203Asp
NM_001258332.1:c.282G>C	NP_001245261.1:p.Glu94Asp
NM_000155.4:c.609G>C MANE Select	NP_000146.2:p.Glu203Asp
NM_001258332.2:c.282G>C	NP_001245261.1:p.Glu94Asp