Canonical Allele Identifier: CA380330505

Gene: RAPSN

Linked Data

• dbSNP Id: rs2076368619
• gnomAD v4: 11-47441908-A-G
• MyVariant Identifiers: chr11:g.47463460A>G (hg19) ; chr11:g.47441908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441908A>G , CM000673.2:g.47441908A>G	GRCh38
NC_000011.9:g.47463460A>G , CM000673.1:g.47463460A>G	GRCh37
NC_000011.8:g.47420036A>G	NCBI36
NG_008312.1:g.12271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.704T>C MANE Select	ENSP00000298854.2:p.Ile235Thr
ENST00000298854.6:c.704T>C	ENSP00000298854.2:p.Ile235Thr
ENST00000352508.7:c.704T>C	ENSP00000298853.3:p.Ile235Thr
ENST00000524487.5:c.545T>C	ENSP00000435551.2:p.Ile182Thr
ENST00000529341.1:c.704T>C	ENSP00000431732.1:p.Ile235Thr
NM_005055.4:c.704T>C	NP_005046.2:p.Ile235Thr
NM_032645.4:c.704T>C	NP_116034.2:p.Ile235Thr
XM_005253042.2:c.704T>C	XP_005253099.1:p.Ile235Thr
XM_005253043.2:c.704T>C	XP_005253100.1:p.Ile235Thr
XM_011520252.1:c.704T>C	XP_011518554.1:p.Ile235Thr
XM_011520253.1:c.704T>C	XP_011518555.1:p.Ile235Thr
XM_005253042.3:c.704T>C	XP_005253099.1:p.Ile235Thr
XM_005253043.3:c.704T>C	XP_005253100.1:p.Ile235Thr
NM_005055.5:c.704T>C MANE Select	NP_005046.2:p.Ile235Thr
NM_032645.5:c.704T>C	NP_116034.2:p.Ile235Thr