Canonical Allele Identifier: CA412349879

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17724349C>T , CM000685.2:g.17724349C>T	GRCh38
NC_000023.10:g.17742469C>T , CM000685.1:g.17742469C>T	GRCh37
NC_000023.9:g.17652390C>T	NCBI36
NG_011553.2:g.353930C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.1159C>T MANE Select	NP_001278796.1:p.Gln387Ter
ENST00000676302.1:c.1159C>T MANE Select	ENSP00000502262.1:p.Gln387Ter
NM_001136024.3:c.628C>T	NP_001129496.1:p.Gln210Ter
NM_001136024.4:c.628C>T	NP_001129496.1:p.Gln210Ter
NM_001291867.1:c.1159C>T	NP_001278796.1:p.Gln387Ter
NM_001291868.1:c.565C>T	NP_001278797.1:p.Gln189Ter
NM_001291868.2:c.565C>T	NP_001278797.1:p.Gln189Ter
NM_198270.3:c.1096C>T	NP_938011.1:p.Gln366Ter
NM_198270.4:c.1096C>T	NP_938011.1:p.Gln366Ter
ENST00000380060.7:c.1096C>T	ENSP00000369400.3:p.Gln366Ter
ENST00000398097.7:c.628C>T	ENSP00000381170.3:p.Gln210Ter
ENST00000485305.1:n.388C>T
ENST00000615422.1:c.619C>T	ENSP00000480113.1:p.Gln207Ter
ENST00000615422.2:n.1554C>T
ENST00000617601.4:c.547C>T	ENSP00000478433.1:p.Gln183Ter
ENST00000690213.1:n.3039C>T
XM_011545528.1:c.211C>T	XP_011543830.1:p.Gln71Ter
XM_011545528.2:c.211C>T	XP_011543830.1:p.Gln71Ter