Canonical Allele Identifier: CA390994765
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882720-A-C
MyVariant Identifiers: chr14:g.101349057A>C (hg19) chr14:g.100882720A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882720A>C , CM000676.2:g.100882720A>C GRCh38
NC_000014.8:g.101349057A>C , CM000676.1:g.101349057A>C GRCh37
NC_000014.7:g.100418810A>C NCBI36
NG_045001.1:g.7128T>G
NG_045000.5:g.51452A>C
NG_045000.6:g.51452A>C
NG_045001.2:g.26003T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2069T>G MANE Select ENSP00000497482.1:p.Phe690Cys
ENST00000534062.1:c.2069T>G ENSP00000435342.1:p.Phe690Cys
NM_001134888.2:c.2069T>G NP_001128360.1:p.Phe690Cys
NM_001134888.3:c.2069T>G MANE Select NP_001128360.1:p.Phe690Cys
Search 100 bp 5'
Search 100 bp 3'