Canonical Allele Identifier: CA373282027
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648382T>A , CM000671.2:g.34648382T>A GRCh38
NC_000009.11:g.34648379T>A , CM000671.1:g.34648379T>A GRCh37
NC_000009.10:g.34638379T>A NCBI36
NG_009029.1:g.6745T>A
NG_028966.1:g.1198T>A
NG_009029.2:g.6794T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*201T>A ENSP00000509954.1:n.*201T>A
ENST00000378842.8:c.613T>A MANE Select ENSP00000368119.4:p.Ser205Thr
ENST00000378842.7:c.613T>A ENSP00000368119.3:p.Ser205Thr
ENST00000450095.6:c.286T>A ENSP00000401956.2:p.Ser96Thr
ENST00000472111.5:n.869T>A
ENST00000473506.6:c.*201T>A ENSP00000432839.2:n.*201T>A
ENST00000473529.5:n.772T>A
ENST00000487381.5:n.998T>A
ENST00000489643.6:n.388T>A
ENST00000554085.5:c.*357T>A ENSP00000450419.1:n.*357T>A
ENST00000554550.5:c.*233T>A ENSP00000451435.1:n.*233T>A
ENST00000554638.5:n.1085T>A
ENST00000554944.5:n.962T>A
ENST00000555020.5:n.769T>A
ENST00000555086.5:n.617T>A
ENST00000555214.5:n.434T>A
ENST00000556244.1:c.600T>A
ENST00000556278.1:c.358T>A ENSP00000451792.1:p.Ser120Thr
ENST00000556494.5:n.734T>A
ENST00000557706.5:n.1175T>A
NM_000155.3:c.613T>A NP_000146.2:p.Ser205Thr
NM_001258332.1:c.286T>A NP_001245261.1:p.Ser96Thr
NM_000155.4:c.613T>A MANE Select NP_000146.2:p.Ser205Thr
NM_001258332.2:c.286T>A NP_001245261.1:p.Ser96Thr