Canonical Allele Identifier: CA119259

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47447927A>G , CM000673.2:g.47447927A>G	GRCh38
NC_000011.9:g.47469479A>G , CM000673.1:g.47469479A>G	GRCh37
NC_000011.8:g.47426055A>G	NCBI36
NG_008312.1:g.6252T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005055.5:c.416T>C MANE Select	NP_005046.2:p.Phe139Ser
ENST00000298854.7:c.416T>C MANE Select	ENSP00000298854.2:p.Phe139Ser
NM_005055.4:c.416T>C	NP_005046.2:p.Phe139Ser
NM_032645.4:c.416T>C	NP_116034.2:p.Phe139Ser
NM_032645.5:c.416T>C	NP_116034.2:p.Phe139Ser
ENST00000298854.6:c.416T>C	ENSP00000298854.2:p.Phe139Ser
ENST00000352508.7:c.416T>C	ENSP00000298853.3:p.Phe139Ser
ENST00000524487.5:c.416T>C	ENSP00000435551.2:p.Phe139Ser
ENST00000529341.1:c.416T>C	ENSP00000431732.1:p.Phe139Ser
XM_005253042.2:c.416T>C	XP_005253099.1:p.Phe139Ser
XM_005253042.3:c.416T>C	XP_005253099.1:p.Phe139Ser
XM_005253043.2:c.416T>C	XP_005253100.1:p.Phe139Ser
XM_005253043.3:c.416T>C	XP_005253100.1:p.Phe139Ser
XM_011520252.1:c.416T>C	XP_011518554.1:p.Phe139Ser
XM_011520253.1:c.416T>C	XP_011518555.1:p.Phe139Ser