Canonical Allele Identifier: CA464404335
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34649489T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649492T>G , CM000671.2:g.34649492T>G GRCh38
NC_000009.11:g.34649489T>G , CM000671.1:g.34649489T>G GRCh37
NC_000009.10:g.34639489T>G NCBI36
NG_009029.1:g.7855T>G
NG_028966.1:g.2308T>G
NG_009029.2:g.7904T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*575T>G ENSP00000509954.1:n.*575T>G
ENST00000378842.8:c.987T>G MANE Select ENSP00000368119.4:p.Ser329=
ENST00000378842.7:c.987T>G ENSP00000368119.3:p.Ser329=
ENST00000450095.6:c.660T>G ENSP00000401956.2:p.Ser220=
ENST00000488412.2:n.571T>G
ENST00000489643.6:n.1395T>G
ENST00000554550.5:c.*607T>G ENSP00000451435.1:n.*607T>G
ENST00000554638.5:n.1459T>G
ENST00000555020.5:n.1776T>G
ENST00000555754.1:n.435T>G
ENST00000556278.1:c.432+1036T>G ENSP00000451792.1:n.432+1036T>G
ENST00000557706.5:n.1562T>G
NM_000155.3:c.987T>G NP_000146.2:p.Ser329=
NM_001258332.1:c.660T>G NP_001245261.1:p.Ser220=
NM_000155.4:c.987T>G MANE Select NP_000146.2:p.Ser329=
NM_001258332.2:c.660T>G NP_001245261.1:p.Ser220=