Canonical Allele Identifier: CA74761535

Gene: STAB1

Linked Data

• dbSNP Id: rs558628668
• gnomAD v2: 3-52532028-G-C
• gnomAD v3: 3-52498012-G-C
• gnomAD v4: 3-52498012-G-C
• MyVariant Identifiers: chr3:g.52532028G>C (hg19) ; chr3:g.52498012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52498012G>C , CM000665.2:g.52498012G>C	GRCh38
NC_000003.11:g.52532028G>C , CM000665.1:g.52532028G>C	GRCh37
NC_000003.10:g.52507068G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.78+2521G>C MANE Select	ENSP00000312946.6:n.78+2521G>C
ENST00000479355.1:n.123+2521G>C
ENST00000481607.1:n.133+2521G>C
NM_015136.2:c.78+2521G>C	NP_055951.2:n.78+2521G>C
XM_005264973.2:c.78+2521G>C	XP_005265030.1:n.78+2521G>C
XM_005264974.2:c.78+2521G>C	XP_005265031.1:n.78+2521G>C
XM_005264975.2:c.78+2521G>C	XP_005265032.1:n.78+2521G>C
XM_006713065.1:c.78+2521G>C	XP_006713128.1:n.78+2521G>C
XM_011533528.1:c.78+2521G>C	XP_011531830.1:n.78+2521G>C
XR_940395.1:n.154+2521G>C
XM_005264973.3:c.78+2521G>C	XP_005265030.1:n.78+2521G>C
XM_017005998.1:c.78+2521G>C	XP_016861487.1:n.78+2521G>C
XM_017005999.1:c.78+2521G>C	XP_016861488.1:n.78+2521G>C
XM_017006000.1:c.78+2521G>C	XP_016861489.1:n.78+2521G>C
XM_017006001.1:c.78+2521G>C	XP_016861490.1:n.78+2521G>C
XM_017006002.1:c.78+2521G>C	XP_016861491.1:n.78+2521G>C
XM_017006003.1:c.78+2521G>C	XP_016861492.1:n.78+2521G>C
XM_017006004.2:c.78+2521G>C	XP_016861493.1:n.78+2521G>C
XR_001740064.1:n.154+2521G>C
NM_015136.3:c.78+2521G>C MANE Select	NP_055951.2:n.78+2521G>C