Canonical Allele Identifier: CA373279231
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647528A>T , CM000671.2:g.34647528A>T GRCh38
NC_000009.11:g.34647525A>T , CM000671.1:g.34647525A>T GRCh37
NC_000009.10:g.34637525A>T NCBI36
NG_009029.1:g.5891A>T
NG_028966.1:g.344A>T
NG_009029.2:g.5940A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.289A>T ENSP00000509954.1:p.Asn97Tyr
ENST00000378842.8:c.289A>T MANE Select ENSP00000368119.4:p.Asn97Tyr
ENST00000378842.7:c.289A>T ENSP00000368119.3:p.Asn97Tyr
ENST00000450095.6:c.50+270A>T ENSP00000401956.2:n.50+270A>T
ENST00000465543.6:n.628A>T
ENST00000472111.5:n.330A>T
ENST00000473506.6:c.253-13A>T ENSP00000432839.2:n.253-13A>T
ENST00000473529.5:n.336A>T
ENST00000485531.1:n.515A>T
ENST00000487381.5:n.548A>T
ENST00000489643.6:n.282+270A>T
ENST00000554085.5:c.*33A>T ENSP00000450419.1:n.*33A>T
ENST00000554139.5:n.342A>T
ENST00000554330.5:n.250-13A>T
ENST00000554550.5:c.252+270A>T ENSP00000451435.1:n.252+270A>T
ENST00000554638.5:n.546A>T
ENST00000554897.5:c.252+270A>T ENSP00000450942.1:n.252+270A>T
ENST00000554944.5:n.283-13A>T
ENST00000555020.5:n.319A>T
ENST00000555086.5:n.293A>T
ENST00000555214.5:n.261+270A>T
ENST00000556157.1:n.413A>T
ENST00000556244.1:c.276A>T
ENST00000556278.1:c.252+270A>T ENSP00000451792.1:n.252+270A>T
ENST00000556403.5:n.302A>T
ENST00000556494.5:n.321A>T
ENST00000557541.5:n.446-13A>T
ENST00000557706.5:n.636A>T
NM_000155.3:c.289A>T NP_000146.2:p.Asn97Tyr
NM_001258332.1:c.50+270A>T NP_001245261.1:n.50+270A>T
NM_000155.4:c.289A>T MANE Select NP_000146.2:p.Asn97Tyr
NM_001258332.2:c.50+270A>T NP_001245261.1:n.50+270A>T