Canonical Allele Identifier: CA247831

Gene: NHS

Linked Data

• ClinVar Variation Id: 198926
• ClinVar RCV Id: RCV000180386 ; RCV001331999
• dbSNP Id: rs794727936
• MyVariant Identifiers: chrX:g.17750411A>C (hg19) ; chrX:g.17732291A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17732291A>C , CM000685.2:g.17732291A>C	GRCh38
NC_000023.10:g.17750411A>C , CM000685.1:g.17750411A>C	GRCh37
NC_000023.9:g.17660332A>C	NCBI36
NG_011553.2:g.361872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.5178A>C
ENST00000676302.1:c.4783A>C MANE Select	ENSP00000502262.1:p.Thr1595Pro
ENST00000380060.7:c.4720A>C	ENSP00000369400.3:p.Thr1574Pro
ENST00000398097.7:c.4252A>C	ENSP00000381170.3:p.Thr1418Pro
ENST00000615422.1:c.4243A>C	ENSP00000480113.1:p.Thr1415Pro
ENST00000617601.4:c.4171A>C	ENSP00000478433.1:p.Thr1391Pro
NM_001136024.3:c.4252A>C	NP_001129496.1:p.Thr1418Pro
NM_001291867.1:c.4783A>C	NP_001278796.1:p.Thr1595Pro
NM_001291868.1:c.4189A>C	NP_001278797.1:p.Thr1397Pro
NM_198270.3:c.4720A>C	NP_938011.1:p.Thr1574Pro
XM_011545528.1:c.3835A>C	XP_011543830.1:p.Thr1279Pro
XM_011545528.2:c.3835A>C	XP_011543830.1:p.Thr1279Pro
NM_001136024.4:c.4252A>C	NP_001129496.1:p.Thr1418Pro
NM_001291867.2:c.4783A>C MANE Select	NP_001278796.1:p.Thr1595Pro
NM_001291868.2:c.4189A>C	NP_001278797.1:p.Thr1397Pro
NM_198270.4:c.4720A>C	NP_938011.1:p.Thr1574Pro