Canonical Allele Identifier: CA259502

Gene: GALT

Linked Data

• dbSNP Id: rs111033763
• gnomAD v4: 9-34648859-G-C
• MyVariant Identifiers: chr9:g.34648856G>C (hg19) ; chr9:g.34648859G>C (hg38)
• PubMed: PMID:11261429

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648859G>C , CM000671.2:g.34648859G>C	GRCh38
NC_000009.11:g.34648856G>C , CM000671.1:g.34648856G>C	GRCh37
NC_000009.10:g.34638856G>C	NCBI36
NG_009029.1:g.7222G>C
NG_028966.1:g.1675G>C
NG_009029.2:g.7271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*373G>C	ENSP00000509954.1:n.*373G>C
ENST00000378842.8:c.785G>C MANE Select	ENSP00000368119.4:p.Arg262Pro
ENST00000378842.7:c.785G>C	ENSP00000368119.3:p.Arg262Pro
ENST00000450095.6:c.458G>C	ENSP00000401956.2:p.Arg153Pro
ENST00000473506.6:c.*373G>C	ENSP00000432839.2:n.*373G>C
ENST00000489643.6:n.865G>C
ENST00000554085.5:c.*529G>C	ENSP00000450419.1:n.*529G>C
ENST00000554550.5:c.*405G>C	ENSP00000451435.1:n.*405G>C
ENST00000554638.5:n.1257G>C
ENST00000555020.5:n.1246G>C
ENST00000555086.5:n.789G>C
ENST00000555754.1:n.130G>C
ENST00000556244.1:c.772G>C
ENST00000556278.1:c.432+403G>C	ENSP00000451792.1:n.432+403G>C
ENST00000557706.5:n.1347G>C
NM_000155.3:c.785G>C	NP_000146.2:p.Arg262Pro
NM_001258332.1:c.458G>C	NP_001245261.1:p.Arg153Pro
NM_000155.4:c.785G>C MANE Select	NP_000146.2:p.Arg262Pro
NM_001258332.2:c.458G>C	NP_001245261.1:p.Arg153Pro