Canonical Allele Identifier: CA7347278
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs146372942
ExAC: 14:101349436 C / G
gnomAD v2: 14-101349436-C-G
gnomAD v3: 14-100883099-C-G
gnomAD v4: 14-100883099-C-G
MyVariant Identifiers: chr14:g.101349436C>G (hg19) chr14:g.100883099C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883099C>G , CM000676.2:g.100883099C>G GRCh38
NC_000014.8:g.101349436C>G , CM000676.1:g.101349436C>G GRCh37
NC_000014.7:g.100419189C>G NCBI36
NG_045001.1:g.6749G>C
NG_045000.5:g.51831C>G
NG_045000.6:g.51831C>G
NG_045001.2:g.25624G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1690G>C MANE Select ENSP00000497482.1:p.Asp564His
ENST00000534062.1:c.1690G>C ENSP00000435342.1:p.Asp564His
NM_001134888.2:c.1690G>C NP_001128360.1:p.Asp564His
NM_001134888.3:c.1690G>C MANE Select NP_001128360.1:p.Asp564His
Search 100 bp 5'
Search 100 bp 3'