Canonical Allele Identifier: CA347498427
Gene: GNLY HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85697606C>A , CM000664.2:g.85697606C>A GRCh38
NC_000002.11:g.85924729C>A , CM000664.1:g.85924729C>A GRCh37
NC_000002.10:g.85778240C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263863.9:c.356C>A MANE Select ENSP00000263863.5:p.Thr119Asn
ENST00000263863.8:c.356C>A ENSP00000263863.4:p.Thr119Asn
ENST00000409696.7:c.311C>A ENSP00000387116.3:p.Thr104Asn
ENST00000489980.5:n.1800C>A
ENST00000524600.5:c.437C>A ENSP00000436423.1:p.Thr146Asn
ENST00000526018.1:c.256C>A
NM_001302758.1:c.437C>A NP_001289687.1:p.Thr146Asn
NM_006433.4:c.356C>A NP_006424.2:p.Thr119Asn
NM_012483.3:c.311C>A NP_036615.2:p.Thr104Asn
XM_005264084.2:c.337-958C>A XP_005264141.1:n.337-958C>A
XM_005264085.2:c.256-958C>A XP_005264142.1:n.256-958C>A
XM_005264087.2:c.211-958C>A XP_005264144.1:n.211-958C>A
NM_001302758.2:c.437C>A NP_001289687.1:p.Thr146Asn
NM_006433.5:c.356C>A MANE Select NP_006424.2:p.Thr119Asn
NM_012483.4:c.311C>A NP_036615.2:p.Thr104Asn