Canonical Allele Identifier: CA5045825
Gene: RMRP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657825C>T , CM000671.2:g.35657825C>T GRCh38
NC_000009.11:g.35657822C>T , CM000671.1:g.35657822C>T GRCh37
NC_000009.10:g.35647822C>T NCBI36
NG_017041.1:g.5194G>A , LRG_163:g.5194G>A
NG_033120.1:g.4536C>T

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.194G>A , LRG_163t1:n.194G>A