Canonical Allele Identifier: CA10358825

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17727585C>T , CM000685.2:g.17727585C>T	GRCh38
NC_000023.10:g.17745705C>T , CM000685.1:g.17745705C>T	GRCh37
NC_000023.9:g.17655626C>T	NCBI36
NG_011553.2:g.357166C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.3479C>T MANE Select	NP_001278796.1:p.Thr1160Ile
ENST00000676302.1:c.3479C>T MANE Select	ENSP00000502262.1:p.Thr1160Ile
NM_001136024.3:c.2948C>T	NP_001129496.1:p.Thr983Ile
NM_001136024.4:c.2948C>T	NP_001129496.1:p.Thr983Ile
NM_001291867.1:c.3479C>T	NP_001278796.1:p.Thr1160Ile
NM_001291868.1:c.2885C>T	NP_001278797.1:p.Thr962Ile
NM_001291868.2:c.2885C>T	NP_001278797.1:p.Thr962Ile
NM_198270.3:c.3416C>T	NP_938011.1:p.Thr1139Ile
NM_198270.4:c.3416C>T	NP_938011.1:p.Thr1139Ile
ENST00000380060.7:c.3416C>T	ENSP00000369400.3:p.Thr1139Ile
ENST00000398097.7:c.2948C>T	ENSP00000381170.3:p.Thr983Ile
ENST00000615422.1:c.2939C>T	ENSP00000480113.1:p.Thr980Ile
ENST00000615422.2:n.3874C>T
ENST00000617601.4:c.2867C>T	ENSP00000478433.1:p.Thr956Ile
ENST00000690608.1:n.2436C>T
XM_011545528.1:c.2531C>T	XP_011543830.1:p.Thr844Ile
XM_011545528.2:c.2531C>T	XP_011543830.1:p.Thr844Ile