Canonical Allele Identifier: CA10603760

Gene: GALT

Linked Data

• ClinVar Variation Id: 280966
• ClinVar RCV Id: RCV000273810
• dbSNP Id: rs886042062
• MyVariant Identifiers: chr9:g.34648371A>C (hg19) ; chr9:g.34648374A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648374A>C , CM000671.2:g.34648374A>C	GRCh38
NC_000009.11:g.34648371A>C , CM000671.1:g.34648371A>C	GRCh37
NC_000009.10:g.34638371A>C	NCBI36
NG_009029.1:g.6737A>C
NG_028966.1:g.1190A>C
NG_009029.2:g.6786A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*193A>C	ENSP00000509954.1:n.*193A>C
ENST00000378842.8:c.605A>C MANE Select	ENSP00000368119.4:p.Glu202Ala
ENST00000378842.7:c.605A>C	ENSP00000368119.3:p.Glu202Ala
ENST00000450095.6:c.278A>C	ENSP00000401956.2:p.Glu93Ala
ENST00000472111.5:n.861A>C
ENST00000473506.6:c.*193A>C	ENSP00000432839.2:n.*193A>C
ENST00000473529.5:n.764A>C
ENST00000485531.1:n.1199A>C
ENST00000487381.5:n.990A>C
ENST00000489643.6:n.380A>C
ENST00000554085.5:c.*349A>C	ENSP00000450419.1:n.*349A>C
ENST00000554139.5:n.851A>C
ENST00000554550.5:c.*225A>C	ENSP00000451435.1:n.*225A>C
ENST00000554638.5:n.1077A>C
ENST00000554897.5:c.*292A>C	ENSP00000450942.1:n.*292A>C
ENST00000554944.5:n.954A>C
ENST00000555020.5:n.761A>C
ENST00000555086.5:n.609A>C
ENST00000555214.5:n.426A>C
ENST00000556244.1:c.592A>C
ENST00000556278.1:c.350A>C	ENSP00000451792.1:p.Glu117Ala
ENST00000556494.5:n.726A>C
ENST00000557706.5:n.1167A>C
NM_000155.3:c.605A>C	NP_000146.2:p.Glu202Ala
NM_001258332.1:c.278A>C	NP_001245261.1:p.Glu93Ala
NM_000155.4:c.605A>C MANE Select	NP_000146.2:p.Glu202Ala
NM_001258332.2:c.278A>C	NP_001245261.1:p.Glu93Ala