Canonical Allele Identifier: CA412348587
Community Standard Title: NM_001291867.2(NHS):c.1108+1G>A
Gene: NHS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17721634G>A , CM000685.2:g.17721634G>A GRCh38
NC_000023.10:g.17739754G>A , CM000685.1:g.17739754G>A GRCh37
NC_000023.9:g.17649675G>A NCBI36
NG_011553.2:g.351215G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291867.2:c.1108+1G>A MANE Select NP_001278796.1:n.1108+1G>A
ENST00000676302.1:c.1108+1G>A MANE Select ENSP00000502262.1:n.1108+1G>A
NM_001136024.3:c.577+1G>A NP_001129496.1:n.577+1G>A
NM_001136024.4:c.577+1G>A NP_001129496.1:n.577+1G>A
NM_001291867.1:c.1108+1G>A NP_001278796.1:n.1108+1G>A
NM_001291868.1:c.514+1G>A NP_001278797.1:n.514+1G>A
NM_001291868.2:c.514+1G>A NP_001278797.1:n.514+1G>A
NM_198270.3:c.1045+1G>A NP_938011.1:n.1045+1G>A
NM_198270.4:c.1045+1G>A NP_938011.1:n.1045+1G>A
ENST00000380060.7:c.1045+1G>A ENSP00000369400.3:n.1045+1G>A
ENST00000398097.7:c.577+1G>A ENSP00000381170.3:n.577+1G>A
ENST00000485305.1:n.337+1G>A
ENST00000615422.1:c.568+1G>A ENSP00000480113.1:n.568+1G>A
ENST00000615422.2:n.1503+1G>A
ENST00000617601.4:c.496+1G>A ENSP00000478433.1:n.496+1G>A
ENST00000690213.1:n.324G>A
XM_011545528.1:c.160+1G>A XP_011543830.1:n.160+1G>A
XM_011545528.2:c.160+1G>A XP_011543830.1:n.160+1G>A