Canonical Allele Identifier: CA373283685
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648812G>A , CM000671.2:g.34648812G>A GRCh38
NC_000009.11:g.34648809G>A , CM000671.1:g.34648809G>A GRCh37
NC_000009.10:g.34638809G>A NCBI36
NG_009029.1:g.7175G>A
NG_028966.1:g.1628G>A
NG_009029.2:g.7224G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*326G>A ENSP00000509954.1:n.*326G>A
ENST00000378842.8:c.738G>A MANE Select ENSP00000368119.4:p.Trp246Ter
ENST00000378842.7:c.738G>A ENSP00000368119.3:p.Trp246Ter
ENST00000450095.6:c.411G>A ENSP00000401956.2:p.Trp137Ter
ENST00000473506.6:c.*326G>A ENSP00000432839.2:n.*326G>A
ENST00000473529.5:n.897G>A
ENST00000487381.5:n.1428G>A
ENST00000489643.6:n.818G>A
ENST00000554085.5:c.*482G>A ENSP00000450419.1:n.*482G>A
ENST00000554550.5:c.*358G>A ENSP00000451435.1:n.*358G>A
ENST00000554638.5:n.1210G>A
ENST00000555020.5:n.1199G>A
ENST00000555086.5:n.742G>A
ENST00000555754.1:n.83G>A
ENST00000556244.1:c.725G>A
ENST00000556278.1:c.432+356G>A ENSP00000451792.1:n.432+356G>A
ENST00000557706.5:n.1300G>A
NM_000155.3:c.738G>A NP_000146.2:p.Trp246Ter
NM_001258332.1:c.411G>A NP_001245261.1:p.Trp137Ter
NM_000155.4:c.738G>A MANE Select NP_000146.2:p.Trp246Ter
NM_001258332.2:c.411G>A NP_001245261.1:p.Trp137Ter