Canonical Allele Identifier: CA373278688
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647187C>A , CM000671.2:g.34647187C>A GRCh38
NC_000009.11:g.34647184C>A , CM000671.1:g.34647184C>A GRCh37
NC_000009.10:g.34637184C>A NCBI36
NG_009029.1:g.5550C>A
NG_028966.1:g.3C>A
NG_009029.2:g.5599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.181C>A ENSP00000509954.1:p.Leu61Ile
ENST00000378842.8:c.181C>A MANE Select ENSP00000368119.4:p.Leu61Ile
ENST00000378842.7:c.181C>A ENSP00000368119.3:p.Leu61Ile
ENST00000450095.6:c.-22C>A ENSP00000401956.2:n.-22C>A
ENST00000465543.6:n.520C>A
ENST00000468099.2:n.221C>A
ENST00000472111.5:n.222C>A
ENST00000473506.6:c.181C>A ENSP00000432839.2:p.Leu61Ile
ENST00000473529.5:n.228C>A
ENST00000485531.1:n.174C>A
ENST00000487381.5:n.207C>A
ENST00000489643.6:n.211C>A
ENST00000554085.5:c.181C>A ENSP00000450419.1:p.Leu61Ile
ENST00000554139.5:n.234C>A
ENST00000554330.5:n.178C>A
ENST00000554550.5:c.181C>A ENSP00000451435.1:p.Leu61Ile
ENST00000554638.5:n.205C>A
ENST00000554897.5:c.181C>A ENSP00000450942.1:p.Leu61Ile
ENST00000554944.5:n.211C>A
ENST00000555020.5:n.211C>A
ENST00000555086.5:n.185C>A
ENST00000555214.5:n.190C>A
ENST00000556157.1:n.288C>A
ENST00000556244.1:c.65C>A
ENST00000556278.1:c.181C>A ENSP00000451792.1:p.Leu61Ile
ENST00000556403.5:n.194C>A
ENST00000556494.5:n.213C>A
ENST00000557541.5:n.374C>A
ENST00000557706.5:n.295C>A
NM_000155.3:c.181C>A NP_000146.2:p.Leu61Ile
NM_001258332.1:c.-22C>A NP_001245261.1:n.-22C>A
NM_000155.4:c.181C>A MANE Select NP_000146.2:p.Leu61Ile
NM_001258332.2:c.-22C>A NP_001245261.1:n.-22C>A