Canonical Allele Identifier: CA412350271

Gene: NHS

Linked Data

• ClinVar Variation Id: 520943
• ClinVar RCV Id: RCV000623307 ; RCV001860427
• dbSNP Id: rs1556038028
• MyVariant Identifiers: chrX:g.17742541C>T (hg19) ; chrX:g.17724421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17724421C>T , CM000685.2:g.17724421C>T	GRCh38
NC_000023.10:g.17742541C>T , CM000685.1:g.17742541C>T	GRCh37
NC_000023.9:g.17652462C>T	NCBI36
NG_011553.2:g.354002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615422.2:n.1626C>T
ENST00000690213.1:n.3111C>T
ENST00000676302.1:c.1231C>T MANE Select	ENSP00000502262.1:p.Gln411Ter
ENST00000380060.7:c.1168C>T	ENSP00000369400.3:p.Gln390Ter
ENST00000398097.7:c.700C>T	ENSP00000381170.3:p.Gln234Ter
ENST00000615422.1:c.691C>T	ENSP00000480113.1:p.Gln231Ter
ENST00000617601.4:c.619C>T	ENSP00000478433.1:p.Gln207Ter
NM_001136024.3:c.700C>T	NP_001129496.1:p.Gln234Ter
NM_001291867.1:c.1231C>T	NP_001278796.1:p.Gln411Ter
NM_001291868.1:c.637C>T	NP_001278797.1:p.Gln213Ter
NM_198270.3:c.1168C>T	NP_938011.1:p.Gln390Ter
XM_011545528.1:c.283C>T	XP_011543830.1:p.Gln95Ter
XM_011545528.2:c.283C>T	XP_011543830.1:p.Gln95Ter
NM_001136024.4:c.700C>T	NP_001129496.1:p.Gln234Ter
NM_001291867.2:c.1231C>T MANE Select	NP_001278796.1:p.Gln411Ter
NM_001291868.2:c.637C>T	NP_001278797.1:p.Gln213Ter
NM_198270.4:c.1168C>T	NP_938011.1:p.Gln390Ter