Canonical Allele Identifier: CA266905142
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs753637587
gnomAD v2: 14-101349413-T-G
gnomAD v3: 14-100883076-T-G
gnomAD v4: 14-100883076-T-G
MyVariant Identifiers: chr14:g.101349413T>G (hg19) chr14:g.100883076T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883076T>G , CM000676.2:g.100883076T>G GRCh38
NC_000014.8:g.101349413T>G , CM000676.1:g.101349413T>G GRCh37
NC_000014.7:g.100419166T>G NCBI36
NG_045001.1:g.6772A>C
NG_045000.5:g.51808T>G
NG_045000.6:g.51808T>G
NG_045001.2:g.25647A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1713A>C MANE Select ENSP00000497482.1:p.Ala571=
ENST00000534062.1:c.1713A>C ENSP00000435342.1:p.Ala571=
NM_001134888.2:c.1713A>C NP_001128360.1:p.Ala571=
NM_001134888.3:c.1713A>C MANE Select NP_001128360.1:p.Ala571=
Search 100 bp 5'
Search 100 bp 3'