Canonical Allele Identifier: CA8479574

Gene: NSRP1

Linked Data

• dbSNP Id: rs535198048
• ExAC: 17:28444085 A / C
• gnomAD v2: 17-28444085-A-C
• gnomAD v3: 17-30117067-A-C
• gnomAD v4: 17-30117067-A-C
• MyVariant Identifiers: chr17:g.28444085A>C (hg19) ; chr17:g.30117067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30117067A>C , CM000679.2:g.30117067A>C	GRCh38
NC_000017.10:g.28444085A>C , CM000679.1:g.28444085A>C	GRCh37
NC_000017.9:g.25468211A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247026.10:c.20+204A>C MANE Select	ENSP00000247026.5:n.20+204A>C
ENST00000247026.9:c.20+204A>C	ENSP00000247026.5:n.20+204A>C
ENST00000394826.8:c.20+204A>C	ENSP00000378303.4:n.20+204A>C
ENST00000475652.5:c.20+204A>C	ENSP00000464569.1:n.20+204A>C
ENST00000479218.6:c.20+204A>C	ENSP00000466640.1:n.20+204A>C
ENST00000540900.7:n.321+204A>C
ENST00000577289.6:n.45+204A>C
ENST00000583301.5:n.25+204A>C
ENST00000584154.5:c.20+204A>C	ENSP00000462820.1:n.20+204A>C
ENST00000584317.5:c.20+204A>C	ENSP00000463722.1:n.20+204A>C
ENST00000584423.5:c.20+204A>C	ENSP00000464237.1:n.20+204A>C
ENST00000585881.5:c.-314A>C	ENSP00000465442.1:n.-314A>C
ENST00000612959.4:c.-49+204A>C	ENSP00000477862.1:n.-49+204A>C
NM_001261467.1:c.-49+204A>C	NP_001248396.1:n.-49+204A>C
NM_032141.3:c.20+204A>C	NP_115517.1:n.20+204A>C
XM_011525345.1:c.20+204A>C	XP_011523647.1:n.20+204A>C
XR_934651.1:n.682+325T>G
XM_011525345.2:c.20+204A>C	XP_011523647.1:n.20+204A>C
NM_032141.4:c.20+204A>C MANE Select	NP_115517.1:n.20+204A>C
NM_001261467.2:c.-49+204A>C	NP_001248396.1:n.-49+204A>C