Canonical Allele Identifier: CA10454928

Gene: NEXMIF

Linked Data

• dbSNP Id: rs778477886
• ExAC: X:73960821 A / G
• gnomAD v2: X-73960821-A-G
• gnomAD v4: X-74740986-A-G
• MyVariant Identifiers: chrX:g.73960821A>G (hg19) ; chrX:g.74740986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740986A>G , CM000685.2:g.74740986A>G	GRCh38
NC_000023.10:g.73960821A>G , CM000685.1:g.73960821A>G	GRCh37
NC_000023.9:g.73877546A>G	NCBI36
NG_027726.1:g.189467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.3571T>C MANE Select	ENSP00000055682.5:p.Ser1191Pro
ENST00000616200.2:c.3571T>C	ENSP00000480284.1:p.Ser1191Pro
ENST00000642681.2:c.3571T>C	ENSP00000495800.1:p.Ser1191Pro
ENST00000055682.10:c.3571T>C	ENSP00000055682.5:p.Ser1191Pro
ENST00000616200.1:c.3571T>C	ENSP00000480284.1:p.Ser1191Pro
NM_001008537.2:c.3571T>C	NP_001008537.1:p.Ser1191Pro
XM_011530935.1:c.3571T>C	XP_011529237.1:p.Ser1191Pro
NM_001008537.3:c.3571T>C MANE Select	NP_001008537.1:p.Ser1191Pro