Canonical Allele Identifier: CA488180888
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038638413
gnomAD v3: 14-100882851-G-A
gnomAD v4: 14-100882851-G-A
MyVariant Identifiers: chr14:g.101349188G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882851G>A , CM000676.2:g.100882851G>A GRCh38
NC_000014.8:g.101349188G>A , CM000676.1:g.101349188G>A GRCh37
NC_000014.7:g.100418941G>A NCBI36
NG_045001.1:g.6997C>T
NG_045000.5:g.51583G>A
NG_045000.6:g.51583G>A
NG_045001.2:g.25872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1938C>T MANE Select ENSP00000497482.1:p.Tyr646=
ENST00000534062.1:c.1938C>T ENSP00000435342.1:p.Tyr646=
NM_001134888.2:c.1938C>T NP_001128360.1:p.Tyr646=
NM_001134888.3:c.1938C>T MANE Select NP_001128360.1:p.Tyr646=
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