Canonical Allele Identifier: CA390996490
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349824G>T (hg19) chr14:g.100883487G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883487G>T , CM000676.2:g.100883487G>T GRCh38
NC_000014.8:g.101349824G>T , CM000676.1:g.101349824G>T GRCh37
NC_000014.7:g.100419577G>T NCBI36
NG_045001.1:g.6361C>A
NG_045000.5:g.52219G>T
NG_045000.6:g.52219G>T
NG_045001.2:g.25236C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1302C>A MANE Select ENSP00000497482.1:p.Asp434Glu
ENST00000534062.1:c.1302C>A ENSP00000435342.1:p.Asp434Glu
NM_001134888.2:c.1302C>A NP_001128360.1:p.Asp434Glu
NM_001134888.3:c.1302C>A MANE Select NP_001128360.1:p.Asp434Glu
Search 100 bp 5'
Search 100 bp 3'