Canonical Allele Identifier: CA390994718
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882699-A-C
MyVariant Identifiers: chr14:g.101349036A>C (hg19) chr14:g.100882699A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882699A>C , CM000676.2:g.100882699A>C GRCh38
NC_000014.8:g.101349036A>C , CM000676.1:g.101349036A>C GRCh37
NC_000014.7:g.100418789A>C NCBI36
NG_045001.1:g.7149T>G
NG_045000.5:g.51431A>C
NG_045000.6:g.51431A>C
NG_045001.2:g.26024T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2090T>G MANE Select ENSP00000497482.1:p.Met697Arg
ENST00000534062.1:c.2090T>G ENSP00000435342.1:p.Met697Arg
NM_001134888.2:c.2090T>G NP_001128360.1:p.Met697Arg
NM_001134888.3:c.2090T>G MANE Select NP_001128360.1:p.Met697Arg
Search 100 bp 5'
Search 100 bp 3'