Canonical Allele Identifier: CA373282033
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*201T>G ENSP00000509954.1:n.*201T>G
ENST00000378842.8:c.613T>G MANE Select ENSP00000368119.4:p.Ser205Ala
ENST00000378842.7:c.613T>G ENSP00000368119.3:p.Ser205Ala
ENST00000450095.6:c.286T>G ENSP00000401956.2:p.Ser96Ala
ENST00000472111.5:n.869T>G
ENST00000473506.6:c.*201T>G ENSP00000432839.2:n.*201T>G
ENST00000473529.5:n.772T>G
ENST00000487381.5:n.998T>G
ENST00000489643.6:n.388T>G
ENST00000554085.5:c.*357T>G ENSP00000450419.1:n.*357T>G
ENST00000554550.5:c.*233T>G ENSP00000451435.1:n.*233T>G
ENST00000554638.5:n.1085T>G
ENST00000554944.5:n.962T>G
ENST00000555020.5:n.769T>G
ENST00000555086.5:n.617T>G
ENST00000555214.5:n.434T>G
ENST00000556244.1:c.600T>G
ENST00000556278.1:c.358T>G ENSP00000451792.1:p.Ser120Ala
ENST00000556494.5:n.734T>G
ENST00000557706.5:n.1175T>G
NM_000155.3:c.613T>G NP_000146.2:p.Ser205Ala
NM_001258332.1:c.286T>G NP_001245261.1:p.Ser96Ala
NM_000155.4:c.613T>G MANE Select NP_000146.2:p.Ser205Ala
NM_001258332.2:c.286T>G NP_001245261.1:p.Ser96Ala