Canonical Allele Identifier: CA326964673

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17692359G>A , CM000685.2:g.17692359G>A	GRCh38
NC_000023.10:g.17710479G>A , CM000685.1:g.17710479G>A	GRCh37
NC_000023.9:g.17620400G>A	NCBI36
NG_011553.2:g.321940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.743G>A MANE Select	NP_001278796.1:p.Arg248Gln
ENST00000676302.1:c.743G>A MANE Select	ENSP00000502262.1:p.Arg248Gln
NM_001136024.3:c.212G>A	NP_001129496.1:p.Arg71Gln
NM_001136024.4:c.212G>A	NP_001129496.1:p.Arg71Gln
NM_001291867.1:c.743G>A	NP_001278796.1:p.Arg248Gln
NM_001291868.1:c.212G>A	NP_001278797.1:p.Arg71Gln
NM_001291868.2:c.212G>A	NP_001278797.1:p.Arg71Gln
NM_198270.3:c.743G>A	NP_938011.1:p.Arg248Gln
NM_198270.4:c.743G>A	NP_938011.1:p.Arg248Gln
ENST00000380060.7:c.743G>A	ENSP00000369400.3:p.Arg248Gln
ENST00000398097.7:c.212G>A	ENSP00000381170.3:p.Arg71Gln
ENST00000615422.1:c.203G>A	ENSP00000480113.1:p.Arg68Gln
ENST00000615422.2:n.1138G>A
ENST00000617601.4:c.194G>A	ENSP00000478433.1:p.Arg65Gln