Canonical Allele Identifier: CA259462
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033833

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648404A>C , CM000671.2:g.34648404A>C GRCh38
NC_000009.11:g.34648401A>C , CM000671.1:g.34648401A>C GRCh37
NC_000009.10:g.34638401A>C NCBI36
NG_009029.1:g.6767A>C
NG_028966.1:g.1220A>C
NG_009029.2:g.6816A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*223A>C ENSP00000509954.1:n.*223A>C
ENST00000378842.8:c.635A>C MANE Select ENSP00000368119.4:p.Gln212Pro
ENST00000378842.7:c.635A>C ENSP00000368119.3:p.Gln212Pro
ENST00000450095.6:c.308A>C ENSP00000401956.2:p.Gln103Pro
ENST00000472111.5:n.891A>C
ENST00000473506.6:c.*223A>C ENSP00000432839.2:n.*223A>C
ENST00000473529.5:n.794A>C
ENST00000487381.5:n.1020A>C
ENST00000489643.6:n.410A>C
ENST00000554085.5:c.*379A>C ENSP00000450419.1:n.*379A>C
ENST00000554550.5:c.*255A>C ENSP00000451435.1:n.*255A>C
ENST00000554638.5:n.1107A>C
ENST00000555020.5:n.791A>C
ENST00000555086.5:n.639A>C
ENST00000555214.5:n.456A>C
ENST00000556244.1:c.622A>C
ENST00000556278.1:c.380A>C ENSP00000451792.1:p.Gln127Pro
ENST00000556494.5:n.756A>C
ENST00000557706.5:n.1197A>C
NM_000155.3:c.635A>C NP_000146.2:p.Gln212Pro
NM_001258332.1:c.308A>C NP_001245261.1:p.Gln103Pro
NM_000155.4:c.635A>C MANE Select NP_000146.2:p.Gln212Pro
NM_001258332.2:c.308A>C NP_001245261.1:p.Gln103Pro