Canonical Allele Identifier: CA148444379

Gene: SGK1

Linked Data

• dbSNP Id: rs753299283
• gnomAD v2: 6-134576483-T-C
• gnomAD v3: 6-134255345-T-C
• gnomAD v4: 6-134255345-T-C
• MyVariant Identifiers: chr6:g.134576483T>C (hg19) ; chr6:g.134255345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.134255345T>C , CM000668.2:g.134255345T>C	GRCh38
NC_000006.11:g.134576483T>C , CM000668.1:g.134576483T>C	GRCh37
NC_000006.10:g.134618176T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367858.10:c.285+6588A>G MANE Select	ENSP00000356832.5:n.285+6588A>G
ENST00000367858.9:c.285+6588A>G	ENSP00000356832.5:n.285+6588A>G
ENST00000460769.1:c.127+6588A>G
ENST00000461976.2:c.192+6588A>G	ENSP00000435577.1:n.192+6588A>G
ENST00000484353.1:n.85+6588A>G
NM_001143676.1:c.285+6588A>G	NP_001137148.1:n.285+6588A>G
XM_011536071.1:c.285+6588A>G	XP_011534373.1:n.285+6588A>G
NM_001143676.3:c.285+6588A>G MANE Select	NP_001137148.1:n.285+6588A>G