Canonical Allele Identifier: CA343644728
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586295G>T , CM000663.2:g.182586295G>T GRCh38
NC_000001.10:g.182555430G>T , CM000663.1:g.182555430G>T GRCh37
NC_000001.9:g.180822053G>T NCBI36
NG_009024.2:g.5679C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.512C>A MANE Select ENSP00000356530.3:p.Ala171Asp
ENST00000539397.1:c.512C>A ENSP00000440844.1:p.Ala171Asp
NM_021133.3:c.512C>A NP_066956.1:p.Ala171Asp
XM_005245411.2:c.512C>A XP_005245468.1:p.Ala171Asp
XR_001737359.1:n.795C>A
XR_001737360.1:n.795C>A
NM_021133.4:c.512C>A MANE Select NP_066956.1:p.Ala171Asp