Canonical Allele Identifier: CA373282182
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648410G>C , CM000671.2:g.34648410G>C GRCh38
NC_000009.11:g.34648407G>C , CM000671.1:g.34648407G>C GRCh37
NC_000009.10:g.34638407G>C NCBI36
NG_009029.1:g.6773G>C
NG_028966.1:g.1226G>C
NG_009029.2:g.6822G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*229G>C ENSP00000509954.1:n.*229G>C
ENST00000378842.8:c.641G>C MANE Select ENSP00000368119.4:p.Gly214Ala
ENST00000378842.7:c.641G>C ENSP00000368119.3:p.Gly214Ala
ENST00000450095.6:c.314G>C ENSP00000401956.2:p.Gly105Ala
ENST00000472111.5:n.897G>C
ENST00000473506.6:c.*229G>C ENSP00000432839.2:n.*229G>C
ENST00000473529.5:n.800G>C
ENST00000487381.5:n.1026G>C
ENST00000489643.6:n.416G>C
ENST00000554085.5:c.*385G>C ENSP00000450419.1:n.*385G>C
ENST00000554550.5:c.*261G>C ENSP00000451435.1:n.*261G>C
ENST00000554638.5:n.1113G>C
ENST00000555020.5:n.797G>C
ENST00000555086.5:n.645G>C
ENST00000555214.5:n.462G>C
ENST00000556244.1:c.628G>C
ENST00000556278.1:c.386G>C ENSP00000451792.1:p.Gly129Ala
ENST00000556494.5:n.762G>C
ENST00000557706.5:n.1203G>C
NM_000155.3:c.641G>C NP_000146.2:p.Gly214Ala
NM_001258332.1:c.314G>C NP_001245261.1:p.Gly105Ala
NM_000155.4:c.641G>C MANE Select NP_000146.2:p.Gly214Ala
NM_001258332.2:c.314G>C NP_001245261.1:p.Gly105Ala