Canonical Allele Identifier: CA2613404384

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47437866-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437866G>T , CM000673.2:g.47437866G>T	GRCh38
NC_000011.9:g.47459417G>T , CM000673.1:g.47459417G>T	GRCh37
NC_000011.8:g.47415993G>T	NCBI36
NG_008312.1:g.16314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*109C>A MANE Select	ENSP00000298854.2:n.*109C>A
ENST00000298854.6:c.*109C>A	ENSP00000298854.2:n.*109C>A
ENST00000352508.7:c.*109C>A	ENSP00000298853.3:n.*109C>A
ENST00000524487.5:c.*109C>A	ENSP00000435551.2:n.*109C>A
ENST00000528356.1:n.303C>A
NM_005055.4:c.*109C>A	NP_005046.2:n.*109C>A
NM_032645.4:c.*109C>A	NP_116034.2:n.*109C>A
XM_011520252.1:c.1433C>A	XP_011518554.1:p.Ala478Asp
NM_005055.5:c.*109C>A MANE Select	NP_005046.2:n.*109C>A
NM_032645.5:c.*109C>A	NP_116034.2:n.*109C>A