Canonical Allele Identifier: CA359432820
Community Standard Title: NM_002185.5(IL7R):c.1092T>A (p.Asp364Glu)
Gene: IL7R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876198T>A , CM000667.2:g.35876198T>A GRCh38
NC_000005.9:g.35876300T>A , CM000667.1:g.35876300T>A GRCh37
NC_000005.8:g.35912057T>A NCBI36
NG_009567.1:g.24310T>A , LRG_74:g.24310T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.1092T>A MANE Select NP_002176.2:p.Asp364Glu
ENST00000303115.8:c.1092T>A MANE Select ENSP00000306157.3:p.Asp364Glu
NM_002185.3:c.1092T>A NP_002176.2:p.Asp364Glu
NM_002185.4:c.1092T>A NP_002176.2:p.Asp364Glu
NR_120485.1:n.932T>A
NR_120485.2:n.958T>A
NR_120485.3:n.916T>A
ENST00000303115.7:c.1092T>A ENSP00000306157.3:p.Asp364Glu
ENST00000505093.1:c.407T>A ENSP00000426069.1:n.407T>A
ENST00000505875.1:n.390T>A
ENST00000514217.5:c.*286T>A ENSP00000427688.1:n.*286T>A
XM_005248299.4:c.*209T>A XP_005248356.1:n.*209T>A
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