Canonical Allele Identifier: CA7347259
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs771052719
ExAC: 14:101349282 G / A
gnomAD v2: 14-101349282-G-A
gnomAD v4: 14-100882945-G-A
MyVariant Identifiers: chr14:g.101349282G>A (hg19) chr14:g.100882945G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882945G>A , CM000676.2:g.100882945G>A GRCh38
NC_000014.8:g.101349282G>A , CM000676.1:g.101349282G>A GRCh37
NC_000014.7:g.100419035G>A NCBI36
NG_045001.1:g.6903C>T
NG_045000.5:g.51677G>A
NG_045000.6:g.51677G>A
NG_045001.2:g.25778C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1844C>T MANE Select ENSP00000497482.1:p.Pro615Leu
ENST00000534062.1:c.1844C>T ENSP00000435342.1:p.Pro615Leu
NM_001134888.2:c.1844C>T NP_001128360.1:p.Pro615Leu
NM_001134888.3:c.1844C>T MANE Select NP_001128360.1:p.Pro615Leu
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