Canonical Allele Identifier: CA2440754

Gene: STAB1

Linked Data

• ClinVar Variation Id: 2621093
• ClinVar RCV Id: RCV003372214
• dbSNP Id: rs768966205
• ExAC: 3:52540774 G / A
• gnomAD v2: 3-52540774-G-A
• gnomAD v3: 3-52506758-G-A
• gnomAD v4: 3-52506758-G-A
• MyVariant Identifiers: chr3:g.52540774G>A (hg19) ; chr3:g.52506758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506758G>A , CM000665.2:g.52506758G>A	GRCh38
NC_000003.11:g.52540774G>A , CM000665.1:g.52540774G>A	GRCh37
NC_000003.10:g.52515814G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.1897G>A MANE Select	ENSP00000312946.6:p.Val633Met
ENST00000481607.1:n.1952G>A
NM_015136.2:c.1897G>A	NP_055951.2:p.Val633Met
XM_005264973.2:c.1897G>A	XP_005265030.1:p.Val633Met
XM_005264974.2:c.1897G>A	XP_005265031.1:p.Val633Met
XM_005264975.2:c.1897G>A	XP_005265032.1:p.Val633Met
XM_006713065.1:c.1897G>A	XP_006713128.1:p.Val633Met
XM_011533528.1:c.1897G>A	XP_011531830.1:p.Val633Met
XR_940395.1:n.1973G>A
XM_005264973.3:c.1897G>A	XP_005265030.1:p.Val633Met
XM_017005998.1:c.1897G>A	XP_016861487.1:p.Val633Met
XM_017005999.1:c.1897G>A	XP_016861488.1:p.Val633Met
XM_017006000.1:c.1897G>A	XP_016861489.1:p.Val633Met
XM_017006001.1:c.1897G>A	XP_016861490.1:p.Val633Met
XM_017006002.1:c.1897G>A	XP_016861491.1:p.Val633Met
XM_017006003.1:c.1897G>A	XP_016861492.1:p.Val633Met
XM_017006004.2:c.1897G>A	XP_016861493.1:p.Val633Met
XR_001740064.1:n.1973G>A
NM_015136.3:c.1897G>A MANE Select	NP_055951.2:p.Val633Met