Canonical Allele Identifier: CA10358968

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17732445C>T , CM000685.2:g.17732445C>T	GRCh38
NC_000023.10:g.17750565C>T , CM000685.1:g.17750565C>T	GRCh37
NC_000023.9:g.17660486C>T	NCBI36
NG_011553.2:g.362026C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.4937C>T MANE Select	NP_001278796.1:p.Ser1646Phe
ENST00000676302.1:c.4937C>T MANE Select	ENSP00000502262.1:p.Ser1646Phe
NM_001136024.3:c.4406C>T	NP_001129496.1:p.Ser1469Phe
NM_001136024.4:c.4406C>T	NP_001129496.1:p.Ser1469Phe
NM_001291867.1:c.4937C>T	NP_001278796.1:p.Ser1646Phe
NM_001291868.1:c.4343C>T	NP_001278797.1:p.Ser1448Phe
NM_001291868.2:c.4343C>T	NP_001278797.1:p.Ser1448Phe
NM_198270.3:c.4874C>T	NP_938011.1:p.Ser1625Phe
NM_198270.4:c.4874C>T	NP_938011.1:p.Ser1625Phe
ENST00000380060.7:c.4874C>T	ENSP00000369400.3:p.Ser1625Phe
ENST00000398097.7:c.4406C>T	ENSP00000381170.3:p.Ser1469Phe
ENST00000615422.1:c.4397C>T	ENSP00000480113.1:p.Ser1466Phe
ENST00000615422.2:n.5332C>T
ENST00000617601.4:c.4325C>T	ENSP00000478433.1:p.Ser1442Phe
XM_011545528.1:c.3989C>T	XP_011543830.1:p.Ser1330Phe
XM_011545528.2:c.3989C>T	XP_011543830.1:p.Ser1330Phe