Canonical Allele Identifier: CA1845636616
Community Standard Title: NM_000155.4(GALT):c.374T= (p.Val125=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647702T= , CM000671.2:g.34647702T= GRCh38
NC_000009.11:g.34647699T= , CM000671.1:g.34647699T= GRCh37
NC_000009.10:g.34637699T= NCBI36
NG_009029.1:g.6065T=
NG_028966.1:g.518T=
NG_009029.2:g.6114T=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.374T= MANE Select NP_000146.2:p.Val125=
ENST00000378842.8:c.374T= MANE Select ENSP00000368119.4:p.Val125=
NM_000155.3:c.374T= NP_000146.2:p.Val125=
NM_001258332.1:c.51-130T= NP_001245261.1:n.51-130T=
NM_001258332.2:c.51-130T= NP_001245261.1:n.51-130T=
ENST00000378842.7:c.374T= ENSP00000368119.3:p.Val125=
ENST00000450095.6:c.51-130T= ENSP00000401956.2:n.51-130T=
ENST00000465543.6:n.713T=
ENST00000472111.5:n.504T=
ENST00000473506.6:c.325T= ENSP00000432839.2:p.Ser109=
ENST00000473529.5:n.510T=
ENST00000485531.1:n.689T=
ENST00000487381.5:n.633T=
ENST00000489643.6:n.283-413T=
ENST00000554085.5:c.*118T= ENSP00000450419.1:n.*118T=
ENST00000554139.5:n.427T=
ENST00000554330.5:n.411T=
ENST00000554550.5:c.253-130T= ENSP00000451435.1:n.253-130T=
ENST00000554638.5:n.720T=
ENST00000554897.5:c.253-130T= ENSP00000450942.1:n.253-130T=
ENST00000554944.5:n.444T=
ENST00000555020.5:n.404T=
ENST00000555086.5:n.378T=
ENST00000555214.5:n.262-346T=
ENST00000556157.1:n.498T=
ENST00000556244.1:c.361T=
ENST00000556278.1:c.253-413T= ENSP00000451792.1:n.253-413T=
ENST00000556403.5:n.476T=
ENST00000556494.5:n.495T=
ENST00000557541.5:n.518T=
ENST00000557706.5:n.810T=
ENST00000691183.1:c.329-130T= ENSP00000509954.1:n.329-130T=