Canonical Allele Identifier: CA488181862
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1174803314
gnomAD v4: 14-100883280-G-A
MyVariant Identifiers: chr14:g.101349617G>A (hg19) chr14:g.100883280G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883280G>A , CM000676.2:g.100883280G>A GRCh38
NC_000014.8:g.101349617G>A , CM000676.1:g.101349617G>A GRCh37
NC_000014.7:g.100419370G>A NCBI36
NG_045001.1:g.6568C>T
NG_045000.5:g.52012G>A
NG_045000.6:g.52012G>A
NG_045001.2:g.25443C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1509C>T MANE Select ENSP00000497482.1:p.Val503=
ENST00000534062.1:c.1509C>T ENSP00000435342.1:p.Val503=
NM_001134888.2:c.1509C>T NP_001128360.1:p.Val503=
NM_001134888.3:c.1509C>T MANE Select NP_001128360.1:p.Val503=
Search 100 bp 5'
Search 100 bp 3'