Canonical Allele Identifier: CA1845638825
Community Standard Title: NM_000155.4(GALT):c.627T= (p.Tyr209=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648396T= , CM000671.2:g.34648396T= GRCh38
NC_000009.11:g.34648393T= , CM000671.1:g.34648393T= GRCh37
NC_000009.10:g.34638393T= NCBI36
NG_009029.1:g.6759T=
NG_028966.1:g.1212T=
NG_009029.2:g.6808T=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.627T= MANE Select NP_000146.2:p.Tyr209=
ENST00000378842.8:c.627T= MANE Select ENSP00000368119.4:p.Tyr209=
NM_000155.3:c.627T= NP_000146.2:p.Tyr209=
NM_001258332.1:c.300T= NP_001245261.1:p.Tyr100=
NM_001258332.2:c.300T= NP_001245261.1:p.Tyr100=
ENST00000378842.7:c.627T= ENSP00000368119.3:p.Tyr209=
ENST00000450095.6:c.300T= ENSP00000401956.2:p.Tyr100=
ENST00000472111.5:n.883T=
ENST00000473506.6:c.*215T= ENSP00000432839.2:n.*215T=
ENST00000473529.5:n.786T=
ENST00000487381.5:n.1012T=
ENST00000489643.6:n.402T=
ENST00000554085.5:c.*371T= ENSP00000450419.1:n.*371T=
ENST00000554550.5:c.*247T= ENSP00000451435.1:n.*247T=
ENST00000554638.5:n.1099T=
ENST00000555020.5:n.783T=
ENST00000555086.5:n.631T=
ENST00000555214.5:n.448T=
ENST00000556244.1:c.614T=
ENST00000556278.1:c.372T= ENSP00000451792.1:p.Tyr124=
ENST00000556494.5:n.748T=
ENST00000557706.5:n.1189T=
ENST00000691183.1:c.*215T= ENSP00000509954.1:n.*215T=