Canonical Allele Identifier: CA148444383
Gene: SGK1 HGNC NCBI

Linked Data

dbSNP Id: rs9493873
gnomAD v2: 6-134576511-T-C
gnomAD v3: 6-134255373-T-C
gnomAD v4: 6-134255373-T-C
MyVariant Identifiers: chr6:g.134576511T>C (hg19) chr6:g.134255373T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.134255373T>C , CM000668.2:g.134255373T>C GRCh38
NC_000006.11:g.134576511T>C , CM000668.1:g.134576511T>C GRCh37
NC_000006.10:g.134618204T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000367858.10:c.285+6560A>G MANE Select ENSP00000356832.5:n.285+6560A>G
ENST00000367858.9:c.285+6560A>G ENSP00000356832.5:n.285+6560A>G
ENST00000460769.1:c.127+6560A>G
ENST00000461976.2:c.192+6560A>G ENSP00000435577.1:n.192+6560A>G
ENST00000484353.1:n.85+6560A>G
NM_001143676.1:c.285+6560A>G NP_001137148.1:n.285+6560A>G
XM_011536071.1:c.285+6560A>G XP_011534373.1:n.285+6560A>G
NM_001143676.3:c.285+6560A>G MANE Select NP_001137148.1:n.285+6560A>G
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