Canonical Allele Identifier: CA390996404
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349789T>G (hg19) chr14:g.100883452T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883452T>G , CM000676.2:g.100883452T>G GRCh38
NC_000014.8:g.101349789T>G , CM000676.1:g.101349789T>G GRCh37
NC_000014.7:g.100419542T>G NCBI36
NG_045001.1:g.6396A>C
NG_045000.5:g.52184T>G
NG_045000.6:g.52184T>G
NG_045001.2:g.25271A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1337A>C MANE Select ENSP00000497482.1:p.His446Pro
ENST00000534062.1:c.1337A>C ENSP00000435342.1:p.His446Pro
NM_001134888.2:c.1337A>C NP_001128360.1:p.His446Pro
NM_001134888.3:c.1337A>C MANE Select NP_001128360.1:p.His446Pro
Search 100 bp 5'
Search 100 bp 3'