Canonical Allele Identifier: CA10358852

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17727891C>T , CM000685.2:g.17727891C>T	GRCh38
NC_000023.10:g.17746011C>T , CM000685.1:g.17746011C>T	GRCh37
NC_000023.9:g.17655932C>T	NCBI36
NG_011553.2:g.357472C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.3785C>T MANE Select	NP_001278796.1:p.Thr1262Met
ENST00000676302.1:c.3785C>T MANE Select	ENSP00000502262.1:p.Thr1262Met
NM_001136024.3:c.3254C>T	NP_001129496.1:p.Thr1085Met
NM_001136024.4:c.3254C>T	NP_001129496.1:p.Thr1085Met
NM_001291867.1:c.3785C>T	NP_001278796.1:p.Thr1262Met
NM_001291868.1:c.3191C>T	NP_001278797.1:p.Thr1064Met
NM_001291868.2:c.3191C>T	NP_001278797.1:p.Thr1064Met
NM_198270.3:c.3722C>T	NP_938011.1:p.Thr1241Met
NM_198270.4:c.3722C>T	NP_938011.1:p.Thr1241Met
ENST00000380060.7:c.3722C>T	ENSP00000369400.3:p.Thr1241Met
ENST00000398097.7:c.3254C>T	ENSP00000381170.3:p.Thr1085Met
ENST00000615422.1:c.3245C>T	ENSP00000480113.1:p.Thr1082Met
ENST00000615422.2:n.4180C>T
ENST00000617601.4:c.3173C>T	ENSP00000478433.1:p.Thr1058Met
ENST00000690608.1:n.2742C>T
XM_011545528.1:c.2837C>T	XP_011543830.1:p.Thr946Met
XM_011545528.2:c.2837C>T	XP_011543830.1:p.Thr946Met