Canonical Allele Identifier: CA353184547

Gene: STAB1

Linked Data

• dbSNP Id: rs1158969038
• gnomAD v3: 3-52506767-A-C
• gnomAD v4: 3-52506767-A-C
• MyVariant Identifiers: chr3:g.52540783A>C (hg19) ; chr3:g.52506767A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506767A>C , CM000665.2:g.52506767A>C	GRCh38
NC_000003.11:g.52540783A>C , CM000665.1:g.52540783A>C	GRCh37
NC_000003.10:g.52515823A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.1906A>C MANE Select	ENSP00000312946.6:p.Met636Leu
ENST00000481607.1:n.1961A>C
NM_015136.2:c.1906A>C	NP_055951.2:p.Met636Leu
XM_005264973.2:c.1906A>C	XP_005265030.1:p.Met636Leu
XM_005264974.2:c.1906A>C	XP_005265031.1:p.Met636Leu
XM_005264975.2:c.1906A>C	XP_005265032.1:p.Met636Leu
XM_006713065.1:c.1906A>C	XP_006713128.1:p.Met636Leu
XM_011533528.1:c.1906A>C	XP_011531830.1:p.Met636Leu
XR_940395.1:n.1982A>C
XM_005264973.3:c.1906A>C	XP_005265030.1:p.Met636Leu
XM_017005998.1:c.1906A>C	XP_016861487.1:p.Met636Leu
XM_017005999.1:c.1906A>C	XP_016861488.1:p.Met636Leu
XM_017006000.1:c.1906A>C	XP_016861489.1:p.Met636Leu
XM_017006001.1:c.1906A>C	XP_016861490.1:p.Met636Leu
XM_017006002.1:c.1906A>C	XP_016861491.1:p.Met636Leu
XM_017006003.1:c.1906A>C	XP_016861492.1:p.Met636Leu
XM_017006004.2:c.1906A>C	XP_016861493.1:p.Met636Leu
XR_001740064.1:n.1982A>C
NM_015136.3:c.1906A>C MANE Select	NP_055951.2:p.Met636Leu