Canonical Allele Identifier: CA2440738

Gene: STAB1

Linked Data

• dbSNP Id: rs774727934
• ExAC: 3:52540706 A / C
• gnomAD v2: 3-52540706-A-C
• gnomAD v3: 3-52506690-A-C
• gnomAD v4: 3-52506690-A-C
• MyVariant Identifiers: chr3:g.52540706A>C (hg19) ; chr3:g.52506690A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506690A>C , CM000665.2:g.52506690A>C	GRCh38
NC_000003.11:g.52540706A>C , CM000665.1:g.52540706A>C	GRCh37
NC_000003.10:g.52515746A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321725.10:c.1831-2A>C MANE Select	ENSP00000312946.6:n.1831-2A>C
ENST00000481607.1:n.1886-2A>C
NM_015136.2:c.1831-2A>C	NP_055951.2:n.1831-2A>C
XM_005264973.2:c.1831-2A>C	XP_005265030.1:n.1831-2A>C
XM_005264974.2:c.1831-2A>C	XP_005265031.1:n.1831-2A>C
XM_005264975.2:c.1831-2A>C	XP_005265032.1:n.1831-2A>C
XM_006713065.1:c.1831-2A>C	XP_006713128.1:n.1831-2A>C
XM_011533528.1:c.1831-2A>C	XP_011531830.1:n.1831-2A>C
XR_940395.1:n.1907-2A>C
XM_005264973.3:c.1831-2A>C	XP_005265030.1:n.1831-2A>C
XM_017005998.1:c.1831-2A>C	XP_016861487.1:n.1831-2A>C
XM_017005999.1:c.1831-2A>C	XP_016861488.1:n.1831-2A>C
XM_017006000.1:c.1831-2A>C	XP_016861489.1:n.1831-2A>C
XM_017006001.1:c.1831-2A>C	XP_016861490.1:n.1831-2A>C
XM_017006002.1:c.1831-2A>C	XP_016861491.1:n.1831-2A>C
XM_017006003.1:c.1831-2A>C	XP_016861492.1:n.1831-2A>C
XM_017006004.2:c.1831-2A>C	XP_016861493.1:n.1831-2A>C
XR_001740064.1:n.1907-2A>C
NM_015136.3:c.1831-2A>C MANE Select	NP_055951.2:n.1831-2A>C