Canonical Allele Identifier: CA231333

Gene: NHS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17692382C>G , CM000685.2:g.17692382C>G	GRCh38
NC_000023.10:g.17710502C>G , CM000685.1:g.17710502C>G	GRCh37
NC_000023.9:g.17620423C>G	NCBI36
NG_011553.2:g.321963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.1161C>G
ENST00000676302.1:c.766C>G MANE Select	ENSP00000502262.1:p.Leu256Val
ENST00000380060.7:c.766C>G	ENSP00000369400.3:p.Leu256Val
ENST00000398097.7:c.235C>G	ENSP00000381170.3:p.Leu79Val
ENST00000615422.1:c.226C>G	ENSP00000480113.1:p.Leu76Val
ENST00000617601.4:c.217C>G	ENSP00000478433.1:p.Leu73Val
NM_001136024.3:c.235C>G	NP_001129496.1:p.Leu79Val
NM_001291867.1:c.766C>G	NP_001278796.1:p.Leu256Val
NM_001291868.1:c.235C>G	NP_001278797.1:p.Leu79Val
NM_198270.3:c.766C>G	NP_938011.1:p.Leu256Val
NM_001136024.4:c.235C>G	NP_001129496.1:p.Leu79Val
NM_001291867.2:c.766C>G MANE Select	NP_001278796.1:p.Leu256Val
NM_001291868.2:c.235C>G	NP_001278797.1:p.Leu79Val
NM_198270.4:c.766C>G	NP_938011.1:p.Leu256Val