Canonical Allele Identifier: CA412368900

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17728741C>T , CM000685.2:g.17728741C>T	GRCh38
NC_000023.10:g.17746861C>T , CM000685.1:g.17746861C>T	GRCh37
NC_000023.9:g.17656782C>T	NCBI36
NG_011553.2:g.358322C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.4315C>T MANE Select	NP_001278796.1:p.Arg1439Ter
ENST00000676302.1:c.4315C>T MANE Select	ENSP00000502262.1:p.Arg1439Ter
NM_001136024.3:c.3784C>T	NP_001129496.1:p.Arg1262Ter
NM_001136024.4:c.3784C>T	NP_001129496.1:p.Arg1262Ter
NM_001291867.1:c.4315C>T	NP_001278796.1:p.Arg1439Ter
NM_001291868.1:c.3721C>T	NP_001278797.1:p.Arg1241Ter
NM_001291868.2:c.3721C>T	NP_001278797.1:p.Arg1241Ter
NM_198270.3:c.4252C>T	NP_938011.1:p.Arg1418Ter
NM_198270.4:c.4252C>T	NP_938011.1:p.Arg1418Ter
ENST00000380060.7:c.4252C>T	ENSP00000369400.3:p.Arg1418Ter
ENST00000398097.7:c.3784C>T	ENSP00000381170.3:p.Arg1262Ter
ENST00000615422.1:c.3775C>T	ENSP00000480113.1:p.Arg1259Ter
ENST00000615422.2:n.4710C>T
ENST00000617601.4:c.3703C>T	ENSP00000478433.1:p.Arg1235Ter
ENST00000690608.1:n.3592C>T
XM_011545528.1:c.3367C>T	XP_011543830.1:p.Arg1123Ter
XM_011545528.2:c.3367C>T	XP_011543830.1:p.Arg1123Ter