Canonical Allele Identifier: CA464403272

Gene: GALT

Linked Data

• ClinVar Variation Id: 2034188
• ClinVar RCV Id: RCV002867699
• COSMIC: COSM3907043
• MyVariant Identifiers: chr9:g.34648866T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648869T>C , CM000671.2:g.34648869T>C	GRCh38
NC_000009.11:g.34648866T>C , CM000671.1:g.34648866T>C	GRCh37
NC_000009.10:g.34638866T>C	NCBI36
NG_009029.1:g.7232T>C
NG_028966.1:g.1685T>C
NG_009029.2:g.7281T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*383T>C	ENSP00000509954.1:n.*383T>C
ENST00000378842.8:c.795T>C MANE Select	ENSP00000368119.4:p.Pro265=
ENST00000378842.7:c.795T>C	ENSP00000368119.3:p.Pro265=
ENST00000450095.6:c.468T>C	ENSP00000401956.2:p.Pro156=
ENST00000473506.6:c.*383T>C	ENSP00000432839.2:n.*383T>C
ENST00000489643.6:n.875T>C
ENST00000554085.5:c.*539T>C	ENSP00000450419.1:n.*539T>C
ENST00000554550.5:c.*415T>C	ENSP00000451435.1:n.*415T>C
ENST00000554638.5:n.1267T>C
ENST00000555020.5:n.1256T>C
ENST00000555086.5:n.799T>C
ENST00000555754.1:n.140T>C
ENST00000556244.1:c.782T>C
ENST00000556278.1:c.432+413T>C	ENSP00000451792.1:n.432+413T>C
ENST00000557706.5:n.1357T>C
NM_000155.3:c.795T>C	NP_000146.2:p.Pro265=
NM_001258332.1:c.468T>C	NP_001245261.1:p.Pro156=
NM_000155.4:c.795T>C MANE Select	NP_000146.2:p.Pro265=
NM_001258332.2:c.468T>C	NP_001245261.1:p.Pro156=