Canonical Allele Identifier: CA2697557734

Gene: GALT

Linked Data

• ClinVar Variation Id: 2754599
• ClinVar RCV Id: RCV003503052

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648985G>C , CM000671.2:g.34648985G>C	GRCh38
NC_000009.11:g.34648982G>C , CM000671.1:g.34648982G>C	GRCh37
NC_000009.10:g.34638982G>C	NCBI36
NG_009029.1:g.7348G>C
NG_028966.1:g.1801G>C
NG_009029.2:g.7397G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*409-13G>C	ENSP00000509954.1:n.*409-13G>C
ENST00000378842.8:c.821-13G>C MANE Select	ENSP00000368119.4:n.821-13G>C
ENST00000378842.7:c.821-13G>C	ENSP00000368119.3:n.821-13G>C
ENST00000450095.6:c.494-13G>C	ENSP00000401956.2:n.494-13G>C
ENST00000488412.2:n.64G>C
ENST00000489643.6:n.901-13G>C
ENST00000554085.5:c.*565-13G>C	ENSP00000450419.1:n.*565-13G>C
ENST00000554550.5:c.*441-13G>C	ENSP00000451435.1:n.*441-13G>C
ENST00000554638.5:n.1293-13G>C
ENST00000555020.5:n.1282-13G>C
ENST00000555086.5:n.915G>C
ENST00000555754.1:n.256G>C
ENST00000556278.1:c.432+529G>C	ENSP00000451792.1:n.432+529G>C
ENST00000557706.5:n.1396-13G>C
NM_000155.3:c.821-13G>C	NP_000146.2:n.821-13G>C
NM_001258332.1:c.494-13G>C	NP_001245261.1:n.494-13G>C
NM_000155.4:c.821-13G>C MANE Select	NP_000146.2:n.821-13G>C
NM_001258332.2:c.494-13G>C	NP_001245261.1:n.494-13G>C