Canonical Allele Identifier: CA390994934
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882795-T-G
MyVariant Identifiers: chr14:g.101349132T>G (hg19) chr14:g.100882795T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882795T>G , CM000676.2:g.100882795T>G GRCh38
NC_000014.8:g.101349132T>G , CM000676.1:g.101349132T>G GRCh37
NC_000014.7:g.100418885T>G NCBI36
NG_045001.1:g.7053A>C
NG_045000.5:g.51527T>G
NG_045000.6:g.51527T>G
NG_045001.2:g.25928A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1994A>C MANE Select ENSP00000497482.1:p.Lys665Thr
ENST00000534062.1:c.1994A>C ENSP00000435342.1:p.Lys665Thr
NM_001134888.2:c.1994A>C NP_001128360.1:p.Lys665Thr
NM_001134888.3:c.1994A>C MANE Select NP_001128360.1:p.Lys665Thr
Search 100 bp 5'
Search 100 bp 3'