Canonical Allele Identifier: CA488181940
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349425G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883088G>A , CM000676.2:g.100883088G>A GRCh38
NC_000014.8:g.101349425G>A , CM000676.1:g.101349425G>A GRCh37
NC_000014.7:g.100419178G>A NCBI36
NG_045001.1:g.6760C>T
NG_045000.5:g.51820G>A
NG_045000.6:g.51820G>A
NG_045001.2:g.25635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1701C>T MANE Select ENSP00000497482.1:p.Asn567=
ENST00000534062.1:c.1701C>T ENSP00000435342.1:p.Asn567=
NM_001134888.2:c.1701C>T NP_001128360.1:p.Asn567=
NM_001134888.3:c.1701C>T MANE Select NP_001128360.1:p.Asn567=