Canonical Allele Identifier: CA373278724
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647206G>T , CM000671.2:g.34647206G>T GRCh38
NC_000009.11:g.34647203G>T , CM000671.1:g.34647203G>T GRCh37
NC_000009.10:g.34637203G>T NCBI36
NG_009029.1:g.5569G>T
NG_028966.1:g.22G>T
NG_009029.2:g.5618G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.200G>T ENSP00000509954.1:p.Arg67Leu
ENST00000378842.8:c.200G>T MANE Select ENSP00000368119.4:p.Arg67Leu
ENST00000378842.7:c.200G>T ENSP00000368119.3:p.Arg67Leu
ENST00000450095.6:c.-3G>T ENSP00000401956.2:n.-3G>T
ENST00000465543.6:n.539G>T
ENST00000468099.2:n.240G>T
ENST00000472111.5:n.241G>T
ENST00000473506.6:c.200G>T ENSP00000432839.2:p.Arg67Leu
ENST00000473529.5:n.247G>T
ENST00000485531.1:n.193G>T
ENST00000487381.5:n.226G>T
ENST00000489643.6:n.230G>T
ENST00000554085.5:c.200G>T ENSP00000450419.1:p.Arg67Leu
ENST00000554139.5:n.253G>T
ENST00000554330.5:n.197G>T
ENST00000554550.5:c.200G>T ENSP00000451435.1:p.Arg67Leu
ENST00000554638.5:n.224G>T
ENST00000554897.5:c.200G>T ENSP00000450942.1:p.Arg67Leu
ENST00000554944.5:n.230G>T
ENST00000555020.5:n.230G>T
ENST00000555086.5:n.204G>T
ENST00000555214.5:n.209G>T
ENST00000556157.1:n.307G>T
ENST00000556244.1:c.84G>T
ENST00000556278.1:c.200G>T ENSP00000451792.1:p.Arg67Leu
ENST00000556403.5:n.213G>T
ENST00000556494.5:n.232G>T
ENST00000557541.5:n.393G>T
ENST00000557706.5:n.314G>T
NM_000155.3:c.200G>T NP_000146.2:p.Arg67Leu
NM_001258332.1:c.-3G>T NP_001245261.1:n.-3G>T
NM_000155.4:c.200G>T MANE Select NP_000146.2:p.Arg67Leu
NM_001258332.2:c.-3G>T NP_001245261.1:n.-3G>T