Canonical Allele Identifier: CA412327309

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17692430C>T , CM000685.2:g.17692430C>T	GRCh38
NC_000023.10:g.17710550C>T , CM000685.1:g.17710550C>T	GRCh37
NC_000023.9:g.17620471C>T	NCBI36
NG_011553.2:g.322011C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.814C>T MANE Select	NP_001278796.1:p.Gln272Ter
ENST00000676302.1:c.814C>T MANE Select	ENSP00000502262.1:p.Gln272Ter
NM_001136024.3:c.283C>T	NP_001129496.1:p.Gln95Ter
NM_001136024.4:c.283C>T	NP_001129496.1:p.Gln95Ter
NM_001291867.1:c.814C>T	NP_001278796.1:p.Gln272Ter
NM_001291868.1:c.283C>T	NP_001278797.1:p.Gln95Ter
NM_001291868.2:c.283C>T	NP_001278797.1:p.Gln95Ter
NM_198270.3:c.814C>T	NP_938011.1:p.Gln272Ter
NM_198270.4:c.814C>T	NP_938011.1:p.Gln272Ter
ENST00000380060.7:c.814C>T	ENSP00000369400.3:p.Gln272Ter
ENST00000398097.7:c.283C>T	ENSP00000381170.3:p.Gln95Ter
ENST00000615422.1:c.274C>T	ENSP00000480113.1:p.Gln92Ter
ENST00000615422.2:n.1209C>T
ENST00000617601.4:c.265C>T	ENSP00000478433.1:p.Gln89Ter