Canonical Allele Identifier: CA373278508
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647104G>T , CM000671.2:g.34647104G>T GRCh38
NC_000009.11:g.34647101G>T , CM000671.1:g.34647101G>T GRCh37
NC_000009.10:g.34637101G>T NCBI36
NG_009029.1:g.5467G>T
NG_009029.2:g.5516G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.98G>T ENSP00000509954.1:p.Arg33Leu
ENST00000378842.8:c.98G>T MANE Select ENSP00000368119.4:p.Arg33Leu
ENST00000378842.7:c.98G>T ENSP00000368119.3:p.Arg33Leu
ENST00000450095.6:c.-105G>T ENSP00000401956.2:n.-105G>T
ENST00000465543.6:n.437G>T
ENST00000468099.2:n.155-17G>T
ENST00000472111.5:n.139G>T
ENST00000473506.6:c.98G>T ENSP00000432839.2:p.Arg33Leu
ENST00000473529.5:n.145G>T
ENST00000485531.1:n.91G>T
ENST00000487381.5:n.124G>T
ENST00000489643.6:n.128G>T
ENST00000554085.5:c.98G>T ENSP00000450419.1:p.Arg33Leu
ENST00000554139.5:n.151G>T
ENST00000554330.5:n.95G>T
ENST00000554550.5:c.98G>T ENSP00000451435.1:p.Arg33Leu
ENST00000554638.5:n.122G>T
ENST00000554897.5:c.98G>T ENSP00000450942.1:p.Arg33Leu
ENST00000554944.5:n.128G>T
ENST00000555020.5:n.128G>T
ENST00000555086.5:n.102G>T
ENST00000555214.5:n.107G>T
ENST00000556157.1:n.205G>T
ENST00000556278.1:c.98G>T ENSP00000451792.1:p.Arg33Leu
ENST00000556403.5:n.111G>T
ENST00000556494.5:n.130G>T
ENST00000557541.5:n.291G>T
ENST00000557706.5:n.212G>T
ENST00000605275.1:n.636G>T
NM_000155.3:c.98G>T NP_000146.2:p.Arg33Leu
NM_001258332.1:c.-105G>T NP_001245261.1:n.-105G>T
NM_000155.4:c.98G>T MANE Select NP_000146.2:p.Arg33Leu
NM_001258332.2:c.-105G>T NP_001245261.1:n.-105G>T