Canonical Allele Identifier: CA373278577
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647133C>A , CM000671.2:g.34647133C>A GRCh38
NC_000009.11:g.34647130C>A , CM000671.1:g.34647130C>A GRCh37
NC_000009.10:g.34637130C>A NCBI36
NG_009029.1:g.5496C>A
NG_009029.2:g.5545C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.127C>A ENSP00000509954.1:p.Leu43Met
ENST00000378842.8:c.127C>A MANE Select ENSP00000368119.4:p.Leu43Met
ENST00000378842.7:c.127C>A ENSP00000368119.3:p.Leu43Met
ENST00000450095.6:c.-76C>A ENSP00000401956.2:n.-76C>A
ENST00000465543.6:n.466C>A
ENST00000468099.2:n.167C>A
ENST00000472111.5:n.168C>A
ENST00000473506.6:c.127C>A ENSP00000432839.2:p.Leu43Met
ENST00000473529.5:n.174C>A
ENST00000485531.1:n.120C>A
ENST00000487381.5:n.153C>A
ENST00000489643.6:n.157C>A
ENST00000554085.5:c.127C>A ENSP00000450419.1:p.Leu43Met
ENST00000554139.5:n.180C>A
ENST00000554330.5:n.124C>A
ENST00000554550.5:c.127C>A ENSP00000451435.1:p.Leu43Met
ENST00000554638.5:n.151C>A
ENST00000554897.5:c.127C>A ENSP00000450942.1:p.Leu43Met
ENST00000554944.5:n.157C>A
ENST00000555020.5:n.157C>A
ENST00000555086.5:n.131C>A
ENST00000555214.5:n.136C>A
ENST00000556157.1:n.234C>A
ENST00000556244.1:c.11C>A
ENST00000556278.1:c.127C>A ENSP00000451792.1:p.Leu43Met
ENST00000556403.5:n.140C>A
ENST00000556494.5:n.159C>A
ENST00000557541.5:n.320C>A
ENST00000557706.5:n.241C>A
ENST00000605275.1:n.665C>A
NM_000155.3:c.127C>A NP_000146.2:p.Leu43Met
NM_001258332.1:c.-76C>A NP_001245261.1:n.-76C>A
NM_000155.4:c.127C>A MANE Select NP_000146.2:p.Leu43Met
NM_001258332.2:c.-76C>A NP_001245261.1:n.-76C>A