Canonical Allele Identifier: CA98655465

Gene: STAP1

Linked Data

• dbSNP Id: rs866799873
• gnomAD v4: 4-67581443-T-C
• MyVariant Identifiers: chr4:g.68447161T>C (hg19) ; chr4:g.67581443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67581443T>C , CM000666.2:g.67581443T>C	GRCh38
NC_000004.11:g.68447161T>C , CM000666.1:g.68447161T>C	GRCh37
NC_000004.10:g.68129756T>C	NCBI36
NG_047142.1:g.27716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265404.7:c.502T>C MANE Select	ENSP00000265404.2:p.Tyr168His
ENST00000265404.6:c.502T>C	ENSP00000265404.2:p.Tyr168His
ENST00000396225.1:c.502T>C	ENSP00000379527.1:p.Tyr168His
NM_012108.2:c.502T>C	NP_036240.1:p.Tyr168His
XM_005265675.3:c.502T>C	XP_005265732.1:p.Tyr168His
XM_006714175.2:c.502T>C	XP_006714238.1:p.Tyr168His
XR_427541.2:n.560T>C
NM_001317769.1:c.502T>C	NP_001304698.1:p.Tyr168His
NM_012108.3:c.502T>C	NP_036240.1:p.Tyr168His
XM_017008018.2:c.502T>C	XP_016863507.1:p.Tyr168His
NM_012108.4:c.502T>C MANE Select	NP_036240.1:p.Tyr168His
NM_001317769.2:c.502T>C	NP_001304698.1:p.Tyr168His