Canonical Allele Identifier: CA908120693

Gene: STAB1

Linked Data

• dbSNP Id: rs1444404584
• gnomAD v3: 3-52498063-G-A
• gnomAD v4: 3-52498063-G-A
• MyVariant Identifiers: chr3:g.52532079G>A (hg19) ; chr3:g.52498063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52498063G>A , CM000665.2:g.52498063G>A	GRCh38
NC_000003.11:g.52532079G>A , CM000665.1:g.52532079G>A	GRCh37
NC_000003.10:g.52507119G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.78+2572G>A MANE Select	ENSP00000312946.6:n.78+2572G>A
ENST00000479355.1:n.123+2572G>A
ENST00000481607.1:n.133+2572G>A
NM_015136.2:c.78+2572G>A	NP_055951.2:n.78+2572G>A
XM_005264973.2:c.78+2572G>A	XP_005265030.1:n.78+2572G>A
XM_005264974.2:c.78+2572G>A	XP_005265031.1:n.78+2572G>A
XM_005264975.2:c.78+2572G>A	XP_005265032.1:n.78+2572G>A
XM_006713065.1:c.78+2572G>A	XP_006713128.1:n.78+2572G>A
XM_011533528.1:c.78+2572G>A	XP_011531830.1:n.78+2572G>A
XR_940395.1:n.154+2572G>A
XM_005264973.3:c.78+2572G>A	XP_005265030.1:n.78+2572G>A
XM_017005998.1:c.78+2572G>A	XP_016861487.1:n.78+2572G>A
XM_017005999.1:c.78+2572G>A	XP_016861488.1:n.78+2572G>A
XM_017006000.1:c.78+2572G>A	XP_016861489.1:n.78+2572G>A
XM_017006001.1:c.78+2572G>A	XP_016861490.1:n.78+2572G>A
XM_017006002.1:c.78+2572G>A	XP_016861491.1:n.78+2572G>A
XM_017006003.1:c.78+2572G>A	XP_016861492.1:n.78+2572G>A
XM_017006004.2:c.78+2572G>A	XP_016861493.1:n.78+2572G>A
XR_001740064.1:n.154+2572G>A
NM_015136.3:c.78+2572G>A MANE Select	NP_055951.2:n.78+2572G>A