Canonical Allele Identifier: CA343643431
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182585992T>C , CM000663.2:g.182585992T>C GRCh38
NC_000001.10:g.182555127T>C , CM000663.1:g.182555127T>C GRCh37
NC_000001.9:g.180821750T>C NCBI36
NG_009024.2:g.5982A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367559.7:c.815A>G MANE Select ENSP00000356530.3:p.Asp272Gly
ENST00000539397.1:c.815A>G ENSP00000440844.1:p.Asp272Gly
NM_021133.3:c.815A>G NP_066956.1:p.Asp272Gly
XM_005245411.2:c.815A>G XP_005245468.1:p.Asp272Gly
XR_001737359.1:n.1098A>G
XR_001737360.1:n.1098A>G
NM_021133.4:c.815A>G MANE Select NP_066956.1:p.Asp272Gly