Canonical Allele Identifier: CA2636995270

Gene: NSRP1

Linked Data

• gnomAD v4: 17-30117077-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30117077A>C , CM000679.2:g.30117077A>C	GRCh38
NC_000017.10:g.28444095A>C , CM000679.1:g.28444095A>C	GRCh37
NC_000017.9:g.25468221A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000247026.10:c.20+214A>C MANE Select	ENSP00000247026.5:n.20+214A>C
ENST00000247026.9:c.20+214A>C	ENSP00000247026.5:n.20+214A>C
ENST00000394826.8:c.20+214A>C	ENSP00000378303.4:n.20+214A>C
ENST00000475652.5:c.20+214A>C	ENSP00000464569.1:n.20+214A>C
ENST00000479218.6:c.20+214A>C	ENSP00000466640.1:n.20+214A>C
ENST00000540900.7:n.321+214A>C
ENST00000577289.6:n.45+214A>C
ENST00000583301.5:n.25+214A>C
ENST00000584154.5:c.20+214A>C	ENSP00000462820.1:n.20+214A>C
ENST00000584317.5:c.20+214A>C	ENSP00000463722.1:n.20+214A>C
ENST00000584423.5:c.20+214A>C	ENSP00000464237.1:n.20+214A>C
ENST00000585881.5:c.-304A>C	ENSP00000465442.1:n.-304A>C
ENST00000612959.4:c.-49+214A>C	ENSP00000477862.1:n.-49+214A>C
NM_001261467.1:c.-49+214A>C	NP_001248396.1:n.-49+214A>C
NM_032141.3:c.20+214A>C	NP_115517.1:n.20+214A>C
XM_011525345.1:c.20+214A>C	XP_011523647.1:n.20+214A>C
XR_934651.1:n.682+315T>G
XM_011525345.2:c.20+214A>C	XP_011523647.1:n.20+214A>C
NM_032141.4:c.20+214A>C MANE Select	NP_115517.1:n.20+214A>C
NM_001261467.2:c.-49+214A>C	NP_001248396.1:n.-49+214A>C