Canonical Allele Identifier: CA412326876

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17692358C>T , CM000685.2:g.17692358C>T	GRCh38
NC_000023.10:g.17710478C>T , CM000685.1:g.17710478C>T	GRCh37
NC_000023.9:g.17620399C>T	NCBI36
NG_011553.2:g.321939C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.742C>T MANE Select	NP_001278796.1:p.Arg248Ter
ENST00000676302.1:c.742C>T MANE Select	ENSP00000502262.1:p.Arg248Ter
NM_001136024.3:c.211C>T	NP_001129496.1:p.Arg71Ter
NM_001136024.4:c.211C>T	NP_001129496.1:p.Arg71Ter
NM_001291867.1:c.742C>T	NP_001278796.1:p.Arg248Ter
NM_001291868.1:c.211C>T	NP_001278797.1:p.Arg71Ter
NM_001291868.2:c.211C>T	NP_001278797.1:p.Arg71Ter
NM_198270.3:c.742C>T	NP_938011.1:p.Arg248Ter
NM_198270.4:c.742C>T	NP_938011.1:p.Arg248Ter
ENST00000380060.7:c.742C>T	ENSP00000369400.3:p.Arg248Ter
ENST00000398097.7:c.211C>T	ENSP00000381170.3:p.Arg71Ter
ENST00000615422.1:c.202C>T	ENSP00000480113.1:p.Arg68Ter
ENST00000615422.2:n.1137C>T
ENST00000617601.4:c.193C>T	ENSP00000478433.1:p.Arg65Ter