Canonical Allele Identifier: CA1364885847
Gene: STAB1 HGNC NCBI

Linked Data

dbSNP Id: rs1578340028

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52498011A>G , CM000665.2:g.52498011A>G GRCh38
NC_000003.11:g.52532027A>G , CM000665.1:g.52532027A>G GRCh37
NC_000003.10:g.52507067A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321725.10:c.78+2520A>G MANE Select ENSP00000312946.6:n.78+2520A>G
ENST00000479355.1:n.123+2520A>G
ENST00000481607.1:n.133+2520A>G
NM_015136.2:c.78+2520A>G NP_055951.2:n.78+2520A>G
XM_005264973.2:c.78+2520A>G XP_005265030.1:n.78+2520A>G
XM_005264974.2:c.78+2520A>G XP_005265031.1:n.78+2520A>G
XM_005264975.2:c.78+2520A>G XP_005265032.1:n.78+2520A>G
XM_006713065.1:c.78+2520A>G XP_006713128.1:n.78+2520A>G
XM_011533528.1:c.78+2520A>G XP_011531830.1:n.78+2520A>G
XR_940395.1:n.154+2520A>G
XM_005264973.3:c.78+2520A>G XP_005265030.1:n.78+2520A>G
XM_017005998.1:c.78+2520A>G XP_016861487.1:n.78+2520A>G
XM_017005999.1:c.78+2520A>G XP_016861488.1:n.78+2520A>G
XM_017006000.1:c.78+2520A>G XP_016861489.1:n.78+2520A>G
XM_017006001.1:c.78+2520A>G XP_016861490.1:n.78+2520A>G
XM_017006002.1:c.78+2520A>G XP_016861491.1:n.78+2520A>G
XM_017006003.1:c.78+2520A>G XP_016861492.1:n.78+2520A>G
XM_017006004.2:c.78+2520A>G XP_016861493.1:n.78+2520A>G
XR_001740064.1:n.154+2520A>G
NM_015136.3:c.78+2520A>G MANE Select NP_055951.2:n.78+2520A>G