Canonical Allele Identifier: CA373283564

Gene: GALT

Linked Data

• dbSNP Id: rs1821175981
• COSMIC: COSM4955225
• MyVariant Identifiers: chr9:g.34648792G>A (hg19) ; chr9:g.34648795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648795G>A , CM000671.2:g.34648795G>A	GRCh38
NC_000009.11:g.34648792G>A , CM000671.1:g.34648792G>A	GRCh37
NC_000009.10:g.34638792G>A	NCBI36
NG_009029.1:g.7158G>A
NG_028966.1:g.1611G>A
NG_009029.2:g.7207G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*309G>A	ENSP00000509954.1:n.*309G>A
ENST00000378842.8:c.721G>A MANE Select	ENSP00000368119.4:p.Val241Ile
ENST00000378842.7:c.721G>A	ENSP00000368119.3:p.Val241Ile
ENST00000450095.6:c.394G>A	ENSP00000401956.2:p.Val132Ile
ENST00000473506.6:c.*309G>A	ENSP00000432839.2:n.*309G>A
ENST00000473529.5:n.880G>A
ENST00000487381.5:n.1411G>A
ENST00000489643.6:n.801G>A
ENST00000554085.5:c.*465G>A	ENSP00000450419.1:n.*465G>A
ENST00000554550.5:c.*341G>A	ENSP00000451435.1:n.*341G>A
ENST00000554638.5:n.1193G>A
ENST00000555020.5:n.1182G>A
ENST00000555086.5:n.725G>A
ENST00000555754.1:n.66G>A
ENST00000556244.1:c.708G>A
ENST00000556278.1:c.432+339G>A	ENSP00000451792.1:n.432+339G>A
ENST00000557706.5:n.1283G>A
NM_000155.3:c.721G>A	NP_000146.2:p.Val241Ile
NM_001258332.1:c.394G>A	NP_001245261.1:p.Val132Ile
NM_000155.4:c.721G>A MANE Select	NP_000146.2:p.Val241Ile
NM_001258332.2:c.394G>A	NP_001245261.1:p.Val132Ile