Canonical Allele Identifier: CA1047971486

Gene: STAB1

Linked Data

• dbSNP Id: rs1708894115
• gnomAD v3: 3-52506671-C-T
• gnomAD v4: 3-52506671-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506671C>T , CM000665.2:g.52506671C>T	GRCh38
NC_000003.11:g.52540687C>T , CM000665.1:g.52540687C>T	GRCh37
NC_000003.10:g.52515727C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.1831-21C>T MANE Select	ENSP00000312946.6:n.1831-21C>T
ENST00000481607.1:n.1886-21C>T
NM_015136.2:c.1831-21C>T	NP_055951.2:n.1831-21C>T
XM_005264973.2:c.1831-21C>T	XP_005265030.1:n.1831-21C>T
XM_005264974.2:c.1831-21C>T	XP_005265031.1:n.1831-21C>T
XM_005264975.2:c.1831-21C>T	XP_005265032.1:n.1831-21C>T
XM_006713065.1:c.1831-21C>T	XP_006713128.1:n.1831-21C>T
XM_011533528.1:c.1831-21C>T	XP_011531830.1:n.1831-21C>T
XR_940395.1:n.1907-21C>T
XM_005264973.3:c.1831-21C>T	XP_005265030.1:n.1831-21C>T
XM_017005998.1:c.1831-21C>T	XP_016861487.1:n.1831-21C>T
XM_017005999.1:c.1831-21C>T	XP_016861488.1:n.1831-21C>T
XM_017006000.1:c.1831-21C>T	XP_016861489.1:n.1831-21C>T
XM_017006001.1:c.1831-21C>T	XP_016861490.1:n.1831-21C>T
XM_017006002.1:c.1831-21C>T	XP_016861491.1:n.1831-21C>T
XM_017006003.1:c.1831-21C>T	XP_016861492.1:n.1831-21C>T
XM_017006004.2:c.1831-21C>T	XP_016861493.1:n.1831-21C>T
XR_001740064.1:n.1907-21C>T
NM_015136.3:c.1831-21C>T MANE Select	NP_055951.2:n.1831-21C>T