Canonical Allele Identifier: CA390996601
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1320969043

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883539A>G , CM000676.2:g.100883539A>G GRCh38
NC_000014.8:g.101349876A>G , CM000676.1:g.101349876A>G GRCh37
NC_000014.7:g.100419629A>G NCBI36
NG_045001.1:g.6309T>C
NG_045000.5:g.52271A>G
NG_045000.6:g.52271A>G
NG_045001.2:g.25184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1250T>C MANE Select ENSP00000497482.1:p.Val417Ala
ENST00000534062.1:c.1250T>C ENSP00000435342.1:p.Val417Ala
NM_001134888.2:c.1250T>C NP_001128360.1:p.Val417Ala
NM_001134888.3:c.1250T>C MANE Select NP_001128360.1:p.Val417Ala