Canonical Allele Identifier: CA7347266

Gene: RTL1

Linked Data

• dbSNP Id: rs566382635
• ExAC: 14:101349308 G / A
• gnomAD v2: 14-101349308-G-A
• gnomAD v3: 14-100882971-G-A
• gnomAD v4: 14-100882971-G-A
• MyVariant Identifiers: chr14:g.101349308G>A (hg19) ; chr14:g.100882971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882971G>A , CM000676.2:g.100882971G>A	GRCh38
NC_000014.8:g.101349308G>A , CM000676.1:g.101349308G>A	GRCh37
NC_000014.7:g.100419061G>A	NCBI36
NG_045001.1:g.6877C>T
NG_045000.5:g.51703G>A
NG_045000.6:g.51703G>A
NG_045001.2:g.25752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1818C>T MANE Select	ENSP00000497482.1:p.Thr606=
ENST00000534062.1:c.1818C>T	ENSP00000435342.1:p.Thr606=
NM_001134888.2:c.1818C>T	NP_001128360.1:p.Thr606=
NM_001134888.3:c.1818C>T MANE Select	NP_001128360.1:p.Thr606=