Canonical Allele Identifier: CA412355443

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17726034C>T , CM000685.2:g.17726034C>T	GRCh38
NC_000023.10:g.17744154C>T , CM000685.1:g.17744154C>T	GRCh37
NC_000023.9:g.17654075C>T	NCBI36
NG_011553.2:g.355615C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.1928C>T MANE Select	NP_001278796.1:p.Ser643Leu
ENST00000676302.1:c.1928C>T MANE Select	ENSP00000502262.1:p.Ser643Leu
NM_001136024.3:c.1397C>T	NP_001129496.1:p.Ser466Leu
NM_001136024.4:c.1397C>T	NP_001129496.1:p.Ser466Leu
NM_001291867.1:c.1928C>T	NP_001278796.1:p.Ser643Leu
NM_001291868.1:c.1334C>T	NP_001278797.1:p.Ser445Leu
NM_001291868.2:c.1334C>T	NP_001278797.1:p.Ser445Leu
NM_198270.3:c.1865C>T	NP_938011.1:p.Ser622Leu
NM_198270.4:c.1865C>T	NP_938011.1:p.Ser622Leu
ENST00000380060.7:c.1865C>T	ENSP00000369400.3:p.Ser622Leu
ENST00000398097.7:c.1397C>T	ENSP00000381170.3:p.Ser466Leu
ENST00000615422.1:c.1388C>T	ENSP00000480113.1:p.Ser463Leu
ENST00000615422.2:n.2323C>T
ENST00000617601.4:c.1316C>T	ENSP00000478433.1:p.Ser439Leu
ENST00000690608.1:n.885C>T
XM_011545528.1:c.980C>T	XP_011543830.1:p.Ser327Leu
XM_011545528.2:c.980C>T	XP_011543830.1:p.Ser327Leu