Canonical Allele Identifier: CA1845635717
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647217C= , CM000671.2:g.34647217C= GRCh38
NC_000009.11:g.34647214C= , CM000671.1:g.34647214C= GRCh37
NC_000009.10:g.34637214C= NCBI36
NG_009029.1:g.5580C=
NG_028966.1:g.33C=
NG_009029.2:g.5629C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.211C= ENSP00000509954.1:p.Leu71=
ENST00000378842.8:c.211C= MANE Select ENSP00000368119.4:p.Leu71=
ENST00000378842.7:c.211C= ENSP00000368119.3:p.Leu71=
ENST00000450095.6:c.9C= ENSP00000401956.2:p.Leu3=
ENST00000465543.6:n.550C=
ENST00000468099.2:n.251C=
ENST00000472111.5:n.252C=
ENST00000473506.6:c.211C= ENSP00000432839.2:p.Leu71=
ENST00000473529.5:n.258C=
ENST00000485531.1:n.204C=
ENST00000487381.5:n.237C=
ENST00000489643.6:n.241C=
ENST00000554085.5:c.211C= ENSP00000450419.1:p.Leu71=
ENST00000554139.5:n.264C=
ENST00000554330.5:n.208C=
ENST00000554550.5:c.211C= ENSP00000451435.1:p.Leu71=
ENST00000554638.5:n.235C=
ENST00000554897.5:c.211C= ENSP00000450942.1:p.Leu71=
ENST00000554944.5:n.241C=
ENST00000555020.5:n.241C=
ENST00000555086.5:n.215C=
ENST00000555214.5:n.220C=
ENST00000556157.1:n.318C=
ENST00000556244.1:c.95C=
ENST00000556278.1:c.211C= ENSP00000451792.1:p.Leu71=
ENST00000556403.5:n.224C=
ENST00000556494.5:n.243C=
ENST00000557541.5:n.404C=
ENST00000557706.5:n.325C=
NM_000155.3:c.211C= NP_000146.2:p.Leu71=
NM_001258332.1:c.9C= NP_001245261.1:p.Leu3=
NM_000155.4:c.211C= MANE Select NP_000146.2:p.Leu71=
NM_001258332.2:c.9C= NP_001245261.1:p.Leu3=