Canonical Allele Identifier: CA390996345
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1240659522
gnomAD v4: 14-100883428-G-A
MyVariant Identifiers: chr14:g.101349765G>A (hg19) chr14:g.100883428G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883428G>A , CM000676.2:g.100883428G>A GRCh38
NC_000014.8:g.101349765G>A , CM000676.1:g.101349765G>A GRCh37
NC_000014.7:g.100419518G>A NCBI36
NG_045001.1:g.6420C>T
NG_045000.5:g.52160G>A
NG_045000.6:g.52160G>A
NG_045001.2:g.25295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1361C>T MANE Select ENSP00000497482.1:p.Pro454Leu
ENST00000534062.1:c.1361C>T ENSP00000435342.1:p.Pro454Leu
NM_001134888.2:c.1361C>T NP_001128360.1:p.Pro454Leu
NM_001134888.3:c.1361C>T MANE Select NP_001128360.1:p.Pro454Leu
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