Canonical Allele Identifier: CA373282340

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648439G>C (hg19) ; chr9:g.34648442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648442G>C , CM000671.2:g.34648442G>C	GRCh38
NC_000009.11:g.34648439G>C , CM000671.1:g.34648439G>C	GRCh37
NC_000009.10:g.34638439G>C	NCBI36
NG_009029.1:g.6805G>C
NG_028966.1:g.1258G>C
NG_009029.2:g.6854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*261G>C	ENSP00000509954.1:n.*261G>C
ENST00000378842.8:c.673G>C MANE Select	ENSP00000368119.4:p.Glu225Gln
ENST00000378842.7:c.673G>C	ENSP00000368119.3:p.Glu225Gln
ENST00000450095.6:c.346G>C	ENSP00000401956.2:p.Glu116Gln
ENST00000472111.5:n.929G>C
ENST00000473506.6:c.*261G>C	ENSP00000432839.2:n.*261G>C
ENST00000473529.5:n.832G>C
ENST00000487381.5:n.1058G>C
ENST00000489643.6:n.448G>C
ENST00000554085.5:c.*417G>C	ENSP00000450419.1:n.*417G>C
ENST00000554550.5:c.*293G>C	ENSP00000451435.1:n.*293G>C
ENST00000554638.5:n.1145G>C
ENST00000555020.5:n.829G>C
ENST00000555086.5:n.677G>C
ENST00000555214.5:n.494G>C
ENST00000555754.1:n.18G>C
ENST00000556244.1:c.660G>C
ENST00000556278.1:c.418G>C	ENSP00000451792.1:p.Glu140Gln
ENST00000556494.5:n.794G>C
ENST00000557706.5:n.1235G>C
NM_000155.3:c.673G>C	NP_000146.2:p.Glu225Gln
NM_001258332.1:c.346G>C	NP_001245261.1:p.Glu116Gln
NM_000155.4:c.673G>C MANE Select	NP_000146.2:p.Glu225Gln
NM_001258332.2:c.346G>C	NP_001245261.1:p.Glu116Gln