Canonical Allele Identifier: CA412363947

Gene: NHS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.17727491C>G , CM000685.2:g.17727491C>G	GRCh38
NC_000023.10:g.17745611C>G , CM000685.1:g.17745611C>G	GRCh37
NC_000023.9:g.17655532C>G	NCBI36
NG_011553.2:g.357072C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001291867.2:c.3385C>G MANE Select	NP_001278796.1:p.Pro1129Ala
ENST00000676302.1:c.3385C>G MANE Select	ENSP00000502262.1:p.Pro1129Ala
NM_001136024.3:c.2854C>G	NP_001129496.1:p.Pro952Ala
NM_001136024.4:c.2854C>G	NP_001129496.1:p.Pro952Ala
NM_001291867.1:c.3385C>G	NP_001278796.1:p.Pro1129Ala
NM_001291868.1:c.2791C>G	NP_001278797.1:p.Pro931Ala
NM_001291868.2:c.2791C>G	NP_001278797.1:p.Pro931Ala
NM_198270.3:c.3322C>G	NP_938011.1:p.Pro1108Ala
NM_198270.4:c.3322C>G	NP_938011.1:p.Pro1108Ala
ENST00000380060.7:c.3322C>G	ENSP00000369400.3:p.Pro1108Ala
ENST00000398097.7:c.2854C>G	ENSP00000381170.3:p.Pro952Ala
ENST00000615422.1:c.2845C>G	ENSP00000480113.1:p.Pro949Ala
ENST00000615422.2:n.3780C>G
ENST00000617601.4:c.2773C>G	ENSP00000478433.1:p.Pro925Ala
ENST00000690608.1:n.2342C>G
XM_011545528.1:c.2437C>G	XP_011543830.1:p.Pro813Ala
XM_011545528.2:c.2437C>G	XP_011543830.1:p.Pro813Ala