Canonical Allele Identifier: CA390996535
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs890613867
gnomAD v2: 14-101349846-G-C
gnomAD v3: 14-100883509-G-C
gnomAD v4: 14-100883509-G-C
MyVariant Identifiers: chr14:g.101349846G>C (hg19) chr14:g.100883509G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883509G>C , CM000676.2:g.100883509G>C GRCh38
NC_000014.8:g.101349846G>C , CM000676.1:g.101349846G>C GRCh37
NC_000014.7:g.100419599G>C NCBI36
NG_045001.1:g.6339C>G
NG_045000.5:g.52241G>C
NG_045000.6:g.52241G>C
NG_045001.2:g.25214C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1280C>G MANE Select ENSP00000497482.1:p.Ala427Gly
ENST00000534062.1:c.1280C>G ENSP00000435342.1:p.Ala427Gly
NM_001134888.2:c.1280C>G NP_001128360.1:p.Ala427Gly
NM_001134888.3:c.1280C>G MANE Select NP_001128360.1:p.Ala427Gly
Search 100 bp 5'
Search 100 bp 3'