Canonical Allele Identifier: CA373283945
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648865T>A , CM000671.2:g.34648865T>A GRCh38
NC_000009.11:g.34648862T>A , CM000671.1:g.34648862T>A GRCh37
NC_000009.10:g.34638862T>A NCBI36
NG_009029.1:g.7228T>A
NG_028966.1:g.1681T>A
NG_009029.2:g.7277T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*379T>A ENSP00000509954.1:n.*379T>A
ENST00000378842.8:c.791T>A MANE Select ENSP00000368119.4:p.Leu264Gln
ENST00000378842.7:c.791T>A ENSP00000368119.3:p.Leu264Gln
ENST00000450095.6:c.464T>A ENSP00000401956.2:p.Leu155Gln
ENST00000473506.6:c.*379T>A ENSP00000432839.2:n.*379T>A
ENST00000489643.6:n.871T>A
ENST00000554085.5:c.*535T>A ENSP00000450419.1:n.*535T>A
ENST00000554550.5:c.*411T>A ENSP00000451435.1:n.*411T>A
ENST00000554638.5:n.1263T>A
ENST00000555020.5:n.1252T>A
ENST00000555086.5:n.795T>A
ENST00000555754.1:n.136T>A
ENST00000556244.1:c.778T>A
ENST00000556278.1:c.432+409T>A ENSP00000451792.1:n.432+409T>A
ENST00000557706.5:n.1353T>A
NM_000155.3:c.791T>A NP_000146.2:p.Leu264Gln
NM_001258332.1:c.464T>A NP_001245261.1:p.Leu155Gln
NM_000155.4:c.791T>A MANE Select NP_000146.2:p.Leu264Gln
NM_001258332.2:c.464T>A NP_001245261.1:p.Leu155Gln