Canonical Allele Identifier: CA266766

Gene: GALT

Linked Data

• ClinVar Variation Id: 92525
• ClinVar RCV Id: RCV000078245
• dbSNP Id: rs398123188
• MyVariant Identifiers: chr9:g.34649487T>C (hg19) ; chr9:g.34649490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649490T>C , CM000671.2:g.34649490T>C	GRCh38
NC_000009.11:g.34649487T>C , CM000671.1:g.34649487T>C	GRCh37
NC_000009.10:g.34639487T>C	NCBI36
NG_009029.1:g.7853T>C
NG_028966.1:g.2306T>C
NG_009029.2:g.7902T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*573T>C	ENSP00000509954.1:n.*573T>C
ENST00000378842.8:c.985T>C MANE Select	ENSP00000368119.4:p.Ser329Pro
ENST00000378842.7:c.985T>C	ENSP00000368119.3:p.Ser329Pro
ENST00000450095.6:c.658T>C	ENSP00000401956.2:p.Ser220Pro
ENST00000488412.2:n.569T>C
ENST00000489643.6:n.1393T>C
ENST00000554550.5:c.*605T>C	ENSP00000451435.1:n.*605T>C
ENST00000554638.5:n.1457T>C
ENST00000555020.5:n.1774T>C
ENST00000555754.1:n.433T>C
ENST00000556278.1:c.432+1034T>C	ENSP00000451792.1:n.432+1034T>C
ENST00000557706.5:n.1560T>C
NM_000155.3:c.985T>C	NP_000146.2:p.Ser329Pro
NM_001258332.1:c.658T>C	NP_001245261.1:p.Ser220Pro
NM_000155.4:c.985T>C MANE Select	NP_000146.2:p.Ser329Pro
NM_001258332.2:c.658T>C	NP_001245261.1:p.Ser220Pro