Canonical Allele Identifier: CA373279151
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647512C>G , CM000671.2:g.34647512C>G GRCh38
NC_000009.11:g.34647509C>G , CM000671.1:g.34647509C>G GRCh37
NC_000009.10:g.34637509C>G NCBI36
NG_009029.1:g.5875C>G
NG_028966.1:g.328C>G
NG_009029.2:g.5924C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.273C>G ENSP00000509954.1:p.Ser91Arg
ENST00000378842.8:c.273C>G MANE Select ENSP00000368119.4:p.Ser91Arg
ENST00000378842.7:c.273C>G ENSP00000368119.3:p.Ser91Arg
ENST00000450095.6:c.50+254C>G ENSP00000401956.2:n.50+254C>G
ENST00000465543.6:n.612C>G
ENST00000468099.2:n.546C>G
ENST00000472111.5:n.314C>G
ENST00000473506.6:c.253-29C>G ENSP00000432839.2:n.253-29C>G
ENST00000473529.5:n.320C>G
ENST00000485531.1:n.499C>G
ENST00000487381.5:n.532C>G
ENST00000489643.6:n.282+254C>G
ENST00000554085.5:c.*17C>G ENSP00000450419.1:n.*17C>G
ENST00000554139.5:n.326C>G
ENST00000554330.5:n.250-29C>G
ENST00000554550.5:c.252+254C>G ENSP00000451435.1:n.252+254C>G
ENST00000554638.5:n.530C>G
ENST00000554897.5:c.252+254C>G ENSP00000450942.1:n.252+254C>G
ENST00000554944.5:n.283-29C>G
ENST00000555020.5:n.303C>G
ENST00000555086.5:n.277C>G
ENST00000555214.5:n.261+254C>G
ENST00000556157.1:n.397C>G
ENST00000556244.1:c.260C>G
ENST00000556278.1:c.252+254C>G ENSP00000451792.1:n.252+254C>G
ENST00000556403.5:n.286C>G
ENST00000556494.5:n.305C>G
ENST00000557541.5:n.446-29C>G
ENST00000557706.5:n.620C>G
NM_000155.3:c.273C>G NP_000146.2:p.Ser91Arg
NM_001258332.1:c.50+254C>G NP_001245261.1:n.50+254C>G
NM_000155.4:c.273C>G MANE Select NP_000146.2:p.Ser91Arg
NM_001258332.2:c.50+254C>G NP_001245261.1:n.50+254C>G