Canonical Allele Identifier: CA10635054

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 304986
• ClinVar RCV Id: RCV000264248 ; RCV000361468
• dbSNP Id: rs547817383
• gnomAD v2: 11-47470629-G-A
• gnomAD v3: 11-47449077-G-A
• gnomAD v4: 11-47449077-G-A
• MyVariant Identifiers: chr11:g.47470629G>A (hg19) ; chr11:g.47449077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47449077G>A , CM000673.2:g.47449077G>A	GRCh38
NC_000011.9:g.47470629G>A , CM000673.1:g.47470629G>A	GRCh37
NC_000011.8:g.47427205G>A	NCBI36
NG_008312.1:g.5102C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.-113C>T MANE Select	ENSP00000298854.2:n.-113C>T
ENST00000298854.6:c.-113C>T	ENSP00000298854.2:n.-113C>T
ENST00000352508.7:c.-113C>T	ENSP00000298853.3:n.-113C>T
ENST00000524487.5:c.-113C>T	ENSP00000435551.2:n.-113C>T
ENST00000529341.1:c.-113C>T	ENSP00000431732.1:n.-113C>T
NM_005055.4:c.-113C>T	NP_005046.2:n.-113C>T
NM_032645.4:c.-113C>T	NP_116034.2:n.-113C>T
XM_005253042.2:c.-113C>T	XP_005253099.1:n.-113C>T
XM_005253043.2:c.-113C>T	XP_005253100.1:n.-113C>T
XM_011520252.1:c.-113C>T	XP_011518554.1:n.-113C>T
XM_011520253.1:c.-113C>T	XP_011518555.1:n.-113C>T
XM_005253042.3:c.-113C>T	XP_005253099.1:n.-113C>T
XM_005253043.3:c.-113C>T	XP_005253100.1:n.-113C>T
NM_005055.5:c.-113C>T MANE Select	NP_005046.2:n.-113C>T
NM_032645.5:c.-113C>T	NP_116034.2:n.-113C>T