Canonical Allele Identifier: CA2440752

Gene: STAB1

Linked Data

• ClinVar Variation Id: 2513445
• ClinVar RCV Id: RCV004288922
• dbSNP Id: rs200673625
• ExAC: 3:52540769 A / G
• gnomAD v2: 3-52540769-A-G
• gnomAD v3: 3-52506753-A-G
• gnomAD v4: 3-52506753-A-G
• MyVariant Identifiers: chr3:g.52540769A>G (hg19) ; chr3:g.52506753A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506753A>G , CM000665.2:g.52506753A>G	GRCh38
NC_000003.11:g.52540769A>G , CM000665.1:g.52540769A>G	GRCh37
NC_000003.10:g.52515809A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321725.10:c.1892A>G MANE Select	ENSP00000312946.6:p.Asn631Ser
ENST00000481607.1:n.1947A>G
NM_015136.2:c.1892A>G	NP_055951.2:p.Asn631Ser
XM_005264973.2:c.1892A>G	XP_005265030.1:p.Asn631Ser
XM_005264974.2:c.1892A>G	XP_005265031.1:p.Asn631Ser
XM_005264975.2:c.1892A>G	XP_005265032.1:p.Asn631Ser
XM_006713065.1:c.1892A>G	XP_006713128.1:p.Asn631Ser
XM_011533528.1:c.1892A>G	XP_011531830.1:p.Asn631Ser
XR_940395.1:n.1968A>G
XM_005264973.3:c.1892A>G	XP_005265030.1:p.Asn631Ser
XM_017005998.1:c.1892A>G	XP_016861487.1:p.Asn631Ser
XM_017005999.1:c.1892A>G	XP_016861488.1:p.Asn631Ser
XM_017006000.1:c.1892A>G	XP_016861489.1:p.Asn631Ser
XM_017006001.1:c.1892A>G	XP_016861490.1:p.Asn631Ser
XM_017006002.1:c.1892A>G	XP_016861491.1:p.Asn631Ser
XM_017006003.1:c.1892A>G	XP_016861492.1:p.Asn631Ser
XM_017006004.2:c.1892A>G	XP_016861493.1:p.Asn631Ser
XR_001740064.1:n.1968A>G
NM_015136.3:c.1892A>G MANE Select	NP_055951.2:p.Asn631Ser