Canonical Allele Identifier: CA1047973653

Gene: STAB1

Linked Data

• dbSNP Id: rs1578340187
• gnomAD v3: 3-52498061-G-C
• gnomAD v4: 3-52498061-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52498061G>C , CM000665.2:g.52498061G>C	GRCh38
NC_000003.11:g.52532077G>C , CM000665.1:g.52532077G>C	GRCh37
NC_000003.10:g.52507117G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.78+2570G>C MANE Select	ENSP00000312946.6:n.78+2570G>C
ENST00000479355.1:n.123+2570G>C
ENST00000481607.1:n.133+2570G>C
NM_015136.2:c.78+2570G>C	NP_055951.2:n.78+2570G>C
XM_005264973.2:c.78+2570G>C	XP_005265030.1:n.78+2570G>C
XM_005264974.2:c.78+2570G>C	XP_005265031.1:n.78+2570G>C
XM_005264975.2:c.78+2570G>C	XP_005265032.1:n.78+2570G>C
XM_006713065.1:c.78+2570G>C	XP_006713128.1:n.78+2570G>C
XM_011533528.1:c.78+2570G>C	XP_011531830.1:n.78+2570G>C
XR_940395.1:n.154+2570G>C
XM_005264973.3:c.78+2570G>C	XP_005265030.1:n.78+2570G>C
XM_017005998.1:c.78+2570G>C	XP_016861487.1:n.78+2570G>C
XM_017005999.1:c.78+2570G>C	XP_016861488.1:n.78+2570G>C
XM_017006000.1:c.78+2570G>C	XP_016861489.1:n.78+2570G>C
XM_017006001.1:c.78+2570G>C	XP_016861490.1:n.78+2570G>C
XM_017006002.1:c.78+2570G>C	XP_016861491.1:n.78+2570G>C
XM_017006003.1:c.78+2570G>C	XP_016861492.1:n.78+2570G>C
XM_017006004.2:c.78+2570G>C	XP_016861493.1:n.78+2570G>C
XR_001740064.1:n.154+2570G>C
NM_015136.3:c.78+2570G>C MANE Select	NP_055951.2:n.78+2570G>C