Canonical Allele Identifier: CA412360962

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17727003C>A , CM000685.2:g.17727003C>A	GRCh38
NC_000023.10:g.17745123C>A , CM000685.1:g.17745123C>A	GRCh37
NC_000023.9:g.17655044C>A	NCBI36
NG_011553.2:g.356584C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.2897C>A MANE Select	NP_001278796.1:p.Ser966Ter
ENST00000676302.1:c.2897C>A MANE Select	ENSP00000502262.1:p.Ser966Ter
NM_001136024.3:c.2366C>A	NP_001129496.1:p.Ser789Ter
NM_001136024.4:c.2366C>A	NP_001129496.1:p.Ser789Ter
NM_001291867.1:c.2897C>A	NP_001278796.1:p.Ser966Ter
NM_001291868.1:c.2303C>A	NP_001278797.1:p.Ser768Ter
NM_001291868.2:c.2303C>A	NP_001278797.1:p.Ser768Ter
NM_198270.3:c.2834C>A	NP_938011.1:p.Ser945Ter
NM_198270.4:c.2834C>A	NP_938011.1:p.Ser945Ter
ENST00000380060.7:c.2834C>A	ENSP00000369400.3:p.Ser945Ter
ENST00000398097.7:c.2366C>A	ENSP00000381170.3:p.Ser789Ter
ENST00000615422.1:c.2357C>A	ENSP00000480113.1:p.Ser786Ter
ENST00000615422.2:n.3292C>A
ENST00000617601.4:c.2285C>A	ENSP00000478433.1:p.Ser762Ter
ENST00000690608.1:n.1854C>A
XM_011545528.1:c.1949C>A	XP_011543830.1:p.Ser650Ter
XM_011545528.2:c.1949C>A	XP_011543830.1:p.Ser650Ter