Canonical Allele Identifier: CA390996590
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883534-G-C
MyVariant Identifiers: chr14:g.101349871G>C (hg19) chr14:g.100883534G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883534G>C , CM000676.2:g.100883534G>C GRCh38
NC_000014.8:g.101349871G>C , CM000676.1:g.101349871G>C GRCh37
NC_000014.7:g.100419624G>C NCBI36
NG_045001.1:g.6314C>G
NG_045000.5:g.52266G>C
NG_045000.6:g.52266G>C
NG_045001.2:g.25189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1255C>G MANE Select ENSP00000497482.1:p.Pro419Ala
ENST00000534062.1:c.1255C>G ENSP00000435342.1:p.Pro419Ala
NM_001134888.2:c.1255C>G NP_001128360.1:p.Pro419Ala
NM_001134888.3:c.1255C>G MANE Select NP_001128360.1:p.Pro419Ala
Search 100 bp 5'
Search 100 bp 3'