Canonical Allele Identifier: CA5976451

Gene: RAPSN

Linked Data

• dbSNP Id: rs757384978
• ExAC: 11:47459496 G / A
• gnomAD v2: 11-47459496-G-A
• gnomAD v3: 11-47437945-G-A
• gnomAD v4: 11-47437945-G-A
• MyVariant Identifiers: chr11:g.47459496G>A (hg19) ; chr11:g.47437945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437945G>A , CM000673.2:g.47437945G>A	GRCh38
NC_000011.9:g.47459496G>A , CM000673.1:g.47459496G>A	GRCh37
NC_000011.8:g.47416072G>A	NCBI36
NG_008312.1:g.16235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*30C>T MANE Select	ENSP00000298854.2:n.*30C>T
ENST00000298854.6:c.*30C>T	ENSP00000298854.2:n.*30C>T
ENST00000352508.7:c.*30C>T	ENSP00000298853.3:n.*30C>T
ENST00000524487.5:c.*30C>T	ENSP00000435551.2:n.*30C>T
ENST00000528356.1:n.224C>T
NM_005055.4:c.*30C>T	NP_005046.2:n.*30C>T
NM_032645.4:c.*30C>T	NP_116034.2:n.*30C>T
XM_005253042.2:c.*30C>T	XP_005253099.1:n.*30C>T
XM_005253043.2:c.*30C>T	XP_005253100.1:n.*30C>T
XM_011520252.1:c.1354C>T	XP_011518554.1:p.Arg452Cys
XM_011520253.1:c.*30C>T	XP_011518555.1:n.*30C>T
XM_005253042.3:c.*30C>T	XP_005253099.1:n.*30C>T
XM_005253043.3:c.*30C>T	XP_005253100.1:n.*30C>T
NM_005055.5:c.*30C>T MANE Select	NP_005046.2:n.*30C>T
NM_032645.5:c.*30C>T	NP_116034.2:n.*30C>T