Canonical Allele Identifier: CA373281397

Gene: GALT

Linked Data

• ClinVar Variation Id: 594299
• ClinVar RCV Id: RCV000729558
• dbSNP Id: rs1564101431
• MyVariant Identifiers: chr9:g.34648124A>C (hg19) ; chr9:g.34648127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648127A>C , CM000671.2:g.34648127A>C	GRCh38
NC_000009.11:g.34648124A>C , CM000671.1:g.34648124A>C	GRCh37
NC_000009.10:g.34638124A>C	NCBI36
NG_009029.1:g.6490A>C
NG_028966.1:g.943A>C
NG_009029.2:g.6539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*108A>C	ENSP00000509954.1:n.*108A>C
ENST00000378842.8:c.520A>C MANE Select	ENSP00000368119.4:p.Lys174Gln
ENST00000378842.7:c.520A>C	ENSP00000368119.3:p.Lys174Gln
ENST00000450095.6:c.193A>C	ENSP00000401956.2:p.Lys65Gln
ENST00000465543.6:n.859A>C
ENST00000472111.5:n.776A>C
ENST00000473506.6:c.*108A>C	ENSP00000432839.2:n.*108A>C
ENST00000473529.5:n.679A>C
ENST00000485531.1:n.1114A>C
ENST00000487381.5:n.905A>C
ENST00000489643.6:n.295A>C
ENST00000554085.5:c.*264A>C	ENSP00000450419.1:n.*264A>C
ENST00000554139.5:n.766A>C
ENST00000554550.5:c.*140A>C	ENSP00000451435.1:n.*140A>C
ENST00000554638.5:n.992A>C
ENST00000554897.5:c.*207A>C	ENSP00000450942.1:n.*207A>C
ENST00000554944.5:n.869A>C
ENST00000555020.5:n.676A>C
ENST00000555086.5:n.524A>C
ENST00000555214.5:n.341A>C
ENST00000556244.1:c.507A>C
ENST00000556278.1:c.265A>C	ENSP00000451792.1:p.Lys89Gln
ENST00000556494.5:n.641A>C
ENST00000557706.5:n.1082A>C
NM_000155.3:c.520A>C	NP_000146.2:p.Lys174Gln
NM_001258332.1:c.193A>C	NP_001245261.1:p.Lys65Gln
NM_000155.4:c.520A>C MANE Select	NP_000146.2:p.Lys174Gln
NM_001258332.2:c.193A>C	NP_001245261.1:p.Lys65Gln