Canonical Allele Identifier: CA464403608

Gene: GALT

Linked Data

• dbSNP Id: rs1821186361
• MyVariant Identifiers: chr9:g.34649056T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649059T>C , CM000671.2:g.34649059T>C	GRCh38
NC_000009.11:g.34649056T>C , CM000671.1:g.34649056T>C	GRCh37
NC_000009.10:g.34639056T>C	NCBI36
NG_009029.1:g.7422T>C
NG_028966.1:g.1875T>C
NG_009029.2:g.7471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*470T>C	ENSP00000509954.1:n.*470T>C
ENST00000378842.8:c.882T>C MANE Select	ENSP00000368119.4:p.Phe294=
ENST00000378842.7:c.882T>C	ENSP00000368119.3:p.Phe294=
ENST00000450095.6:c.555T>C	ENSP00000401956.2:p.Phe185=
ENST00000488412.2:n.138T>C
ENST00000489643.6:n.962T>C
ENST00000554550.5:c.*502T>C	ENSP00000451435.1:n.*502T>C
ENST00000554638.5:n.1354T>C
ENST00000555020.5:n.1343T>C
ENST00000555086.5:n.989T>C
ENST00000555754.1:n.330T>C
ENST00000556278.1:c.432+603T>C	ENSP00000451792.1:n.432+603T>C
ENST00000557706.5:n.1457T>C
NM_000155.3:c.882T>C	NP_000146.2:p.Phe294=
NM_001258332.1:c.555T>C	NP_001245261.1:p.Phe185=
NM_000155.4:c.882T>C MANE Select	NP_000146.2:p.Phe294=
NM_001258332.2:c.555T>C	NP_001245261.1:p.Phe185=