Canonical Allele Identifier: CA373282246
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648425T>A , CM000671.2:g.34648425T>A GRCh38
NC_000009.11:g.34648422T>A , CM000671.1:g.34648422T>A GRCh37
NC_000009.10:g.34638422T>A NCBI36
NG_009029.1:g.6788T>A
NG_028966.1:g.1241T>A
NG_009029.2:g.6837T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*244T>A ENSP00000509954.1:n.*244T>A
ENST00000378842.8:c.656T>A MANE Select ENSP00000368119.4:p.Met219Lys
ENST00000378842.7:c.656T>A ENSP00000368119.3:p.Met219Lys
ENST00000450095.6:c.329T>A ENSP00000401956.2:p.Met110Lys
ENST00000472111.5:n.912T>A
ENST00000473506.6:c.*244T>A ENSP00000432839.2:n.*244T>A
ENST00000473529.5:n.815T>A
ENST00000487381.5:n.1041T>A
ENST00000489643.6:n.431T>A
ENST00000554085.5:c.*400T>A ENSP00000450419.1:n.*400T>A
ENST00000554550.5:c.*276T>A ENSP00000451435.1:n.*276T>A
ENST00000554638.5:n.1128T>A
ENST00000555020.5:n.812T>A
ENST00000555086.5:n.660T>A
ENST00000555214.5:n.477T>A
ENST00000555754.1:n.1T>A
ENST00000556244.1:c.643T>A
ENST00000556278.1:c.401T>A ENSP00000451792.1:p.Met134Lys
ENST00000556494.5:n.777T>A
ENST00000557706.5:n.1218T>A
NM_000155.3:c.656T>A NP_000146.2:p.Met219Lys
NM_001258332.1:c.329T>A NP_001245261.1:p.Met110Lys
NM_000155.4:c.656T>A MANE Select NP_000146.2:p.Met219Lys
NM_001258332.2:c.329T>A NP_001245261.1:p.Met110Lys