Canonical Allele Identifier: CA390994771
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1382380526
gnomAD v3: 14-100882723-G-A
gnomAD v4: 14-100882723-G-A
MyVariant Identifiers: chr14:g.101349060G>A (hg19) chr14:g.100882723G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882723G>A , CM000676.2:g.100882723G>A GRCh38
NC_000014.8:g.101349060G>A , CM000676.1:g.101349060G>A GRCh37
NC_000014.7:g.100418813G>A NCBI36
NG_045001.1:g.7125C>T
NG_045000.5:g.51455G>A
NG_045000.6:g.51455G>A
NG_045001.2:g.26000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2066C>T MANE Select ENSP00000497482.1:p.Ala689Val
ENST00000534062.1:c.2066C>T ENSP00000435342.1:p.Ala689Val
NM_001134888.2:c.2066C>T NP_001128360.1:p.Ala689Val
NM_001134888.3:c.2066C>T MANE Select NP_001128360.1:p.Ala689Val
Search 100 bp 5'
Search 100 bp 3'