Canonical Allele Identifier: CA321138

Gene: SKI

Linked Data

• ClinVar Variation Id: 213698
• ClinVar RCV Id: RCV000585615 ; RCV000763830 ; RCV002315618
• dbSNP Id: rs774106502
• ExAC: 1:2237568 A / T
• gnomAD v2: 1-2237568-A-T
• gnomAD v3: 1-2306129-A-T
• gnomAD v4: 1-2306129-A-T
• MyVariant Identifiers: chr1:g.2237568A>T (hg19) ; chr1:g.2306129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2306129A>T , CM000663.2:g.2306129A>T	GRCh38
NC_000001.10:g.2237568A>T , CM000663.1:g.2237568A>T	GRCh37
NC_000001.9:g.2227428A>T	NCBI36
NG_013084.1:g.82435A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1877A>T MANE Select	ENSP00000367797.4:p.Lys626Met
ENST00000378536.4:c.1877A>T	ENSP00000367797.4:p.Lys626Met
NM_003036.3:c.1877A>T	NP_003027.1:p.Lys626Met
XM_005244775.2:c.1883A>T	XP_005244832.1:p.Lys628Met
XM_005244776.3:c.1013A>T	XP_005244833.1:p.Lys338Met
XM_005244775.3:c.1883A>T	XP_005244832.1:p.Lys628Met
XM_005244776.4:c.1013A>T	XP_005244833.1:p.Lys338Met
XM_017002128.1:c.1391A>T	XP_016857617.1:p.Lys464Met
NM_003036.4:c.1877A>T MANE Select	NP_003027.1:p.Lys626Met