Canonical Allele Identifier: CA259548

Gene: GALT

Linked Data

• dbSNP Id: rs111033796
• MyVariant Identifiers: chr9:g.34649469T>C (hg19) ; chr9:g.34649472T>C (hg38)
• PubMed: PMID:10408771

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*555T>C	ENSP00000509954.1:n.*555T>C
ENST00000378842.8:c.967T>C MANE Select	ENSP00000368119.4:p.Tyr323His
ENST00000378842.7:c.967T>C	ENSP00000368119.3:p.Tyr323His
ENST00000450095.6:c.640T>C	ENSP00000401956.2:p.Tyr214His
ENST00000488412.2:n.551T>C
ENST00000489643.6:n.1375T>C
ENST00000554550.5:c.*587T>C	ENSP00000451435.1:n.*587T>C
ENST00000554638.5:n.1439T>C
ENST00000555020.5:n.1756T>C
ENST00000555754.1:n.415T>C
ENST00000556278.1:c.432+1016T>C	ENSP00000451792.1:n.432+1016T>C
ENST00000557706.5:n.1542T>C
NM_000155.3:c.967T>C	NP_000146.2:p.Tyr323His
NM_001258332.1:c.640T>C	NP_001245261.1:p.Tyr214His
NM_000155.4:c.967T>C MANE Select	NP_000146.2:p.Tyr323His
NM_001258332.2:c.640T>C	NP_001245261.1:p.Tyr214His