Canonical Allele Identifier: CA246853

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17727416C>T , CM000685.2:g.17727416C>T	GRCh38
NC_000023.10:g.17745536C>T , CM000685.1:g.17745536C>T	GRCh37
NC_000023.9:g.17655457C>T	NCBI36
NG_011553.2:g.356997C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.3310C>T MANE Select	NP_001278796.1:p.His1104Tyr
ENST00000676302.1:c.3310C>T MANE Select	ENSP00000502262.1:p.His1104Tyr
NM_001136024.3:c.2779C>T	NP_001129496.1:p.His927Tyr
NM_001136024.4:c.2779C>T	NP_001129496.1:p.His927Tyr
NM_001291867.1:c.3310C>T	NP_001278796.1:p.His1104Tyr
NM_001291868.1:c.2716C>T	NP_001278797.1:p.His906Tyr
NM_001291868.2:c.2716C>T	NP_001278797.1:p.His906Tyr
NM_198270.3:c.3247C>T	NP_938011.1:p.His1083Tyr
NM_198270.4:c.3247C>T	NP_938011.1:p.His1083Tyr
ENST00000380060.7:c.3247C>T	ENSP00000369400.3:p.His1083Tyr
ENST00000398097.7:c.2779C>T	ENSP00000381170.3:p.His927Tyr
ENST00000615422.1:c.2770C>T	ENSP00000480113.1:p.His924Tyr
ENST00000615422.2:n.3705C>T
ENST00000617601.4:c.2698C>T	ENSP00000478433.1:p.His900Tyr
ENST00000690608.1:n.2267C>T
XM_011545528.1:c.2362C>T	XP_011543830.1:p.His788Tyr
XM_011545528.2:c.2362C>T	XP_011543830.1:p.His788Tyr