Canonical Allele Identifier: CA259547

Gene: GALT

Linked Data

• dbSNP Id: rs111033796
• MyVariant Identifiers: chr9:g.34649469T>G (hg19) ; chr9:g.34649472T>G (hg38)
• PubMed: PMID:7887416

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649472T>G , CM000671.2:g.34649472T>G	GRCh38
NC_000009.11:g.34649469T>G , CM000671.1:g.34649469T>G	GRCh37
NC_000009.10:g.34639469T>G	NCBI36
NG_009029.1:g.7835T>G
NG_028966.1:g.2288T>G
NG_009029.2:g.7884T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*555T>G	ENSP00000509954.1:n.*555T>G
ENST00000378842.8:c.967T>G MANE Select	ENSP00000368119.4:p.Tyr323Asp
ENST00000378842.7:c.967T>G	ENSP00000368119.3:p.Tyr323Asp
ENST00000450095.6:c.640T>G	ENSP00000401956.2:p.Tyr214Asp
ENST00000488412.2:n.551T>G
ENST00000489643.6:n.1375T>G
ENST00000554550.5:c.*587T>G	ENSP00000451435.1:n.*587T>G
ENST00000554638.5:n.1439T>G
ENST00000555020.5:n.1756T>G
ENST00000555754.1:n.415T>G
ENST00000556278.1:c.432+1016T>G	ENSP00000451792.1:n.432+1016T>G
ENST00000557706.5:n.1542T>G
NM_000155.3:c.967T>G	NP_000146.2:p.Tyr323Asp
NM_001258332.1:c.640T>G	NP_001245261.1:p.Tyr214Asp
NM_000155.4:c.967T>G MANE Select	NP_000146.2:p.Tyr323Asp
NM_001258332.2:c.640T>G	NP_001245261.1:p.Tyr214Asp