Canonical Allele Identifier: CA2613404264

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47437839-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437839C>A , CM000673.2:g.47437839C>A	GRCh38
NC_000011.9:g.47459390C>A , CM000673.1:g.47459390C>A	GRCh37
NC_000011.8:g.47415966C>A	NCBI36
NG_008312.1:g.16341G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*136G>T MANE Select	ENSP00000298854.2:n.*136G>T
ENST00000298854.6:c.*136G>T	ENSP00000298854.2:n.*136G>T
ENST00000352508.7:c.*136G>T	ENSP00000298853.3:n.*136G>T
ENST00000524487.5:c.*136G>T	ENSP00000435551.2:n.*136G>T
ENST00000528356.1:n.330G>T
NM_005055.4:c.*136G>T	NP_005046.2:n.*136G>T
NM_032645.4:c.*136G>T	NP_116034.2:n.*136G>T
XM_011520252.1:c.1460G>T	XP_011518554.1:p.Cys487Phe
NM_005055.5:c.*136G>T MANE Select	NP_005046.2:n.*136G>T
NM_032645.5:c.*136G>T	NP_116034.2:n.*136G>T