Canonical Allele Identifier: CA390995958
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883249G>A , CM000676.2:g.100883249G>A GRCh38
NC_000014.8:g.101349586G>A , CM000676.1:g.101349586G>A GRCh37
NC_000014.7:g.100419339G>A NCBI36
NG_045001.1:g.6599C>T
NG_045000.5:g.51981G>A
NG_045000.6:g.51981G>A
NG_045001.2:g.25474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1540C>T MANE Select ENSP00000497482.1:p.Pro514Ser
ENST00000534062.1:c.1540C>T ENSP00000435342.1:p.Pro514Ser
NM_001134888.2:c.1540C>T NP_001128360.1:p.Pro514Ser
NM_001134888.3:c.1540C>T MANE Select NP_001128360.1:p.Pro514Ser