Canonical Allele Identifier: CA464404561
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34649549C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649552C>G , CM000671.2:g.34649552C>G GRCh38
NC_000009.11:g.34649549C>G , CM000671.1:g.34649549C>G GRCh37
NC_000009.10:g.34639549C>G NCBI36
NG_009029.1:g.7915C>G
NG_028966.1:g.2368C>G
NG_009029.2:g.7964C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*635C>G ENSP00000509954.1:n.*635C>G
ENST00000378842.8:c.1047C>G MANE Select ENSP00000368119.4:p.Leu349=
ENST00000378842.7:c.1047C>G ENSP00000368119.3:p.Leu349=
ENST00000450095.6:c.720C>G ENSP00000401956.2:p.Leu240=
ENST00000488412.2:n.631C>G
ENST00000489643.6:n.1455C>G
ENST00000554550.5:c.*667C>G ENSP00000451435.1:n.*667C>G
ENST00000554638.5:n.1519C>G
ENST00000555020.5:n.1836C>G
ENST00000555754.1:n.495C>G
ENST00000556278.1:c.432+1096C>G ENSP00000451792.1:n.432+1096C>G
ENST00000557706.5:n.1622C>G
NM_000155.3:c.1047C>G NP_000146.2:p.Leu349=
NM_001258332.1:c.720C>G NP_001245261.1:p.Leu240=
NM_000155.4:c.1047C>G MANE Select NP_000146.2:p.Leu349=
NM_001258332.2:c.720C>G NP_001245261.1:p.Leu240=