Canonical Allele Identifier: CA390996493

Gene: RTL1

Linked Data

• MyVariant Identifiers: chr14:g.101349825T>C (hg19) ; chr14:g.100883488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883488T>C , CM000676.2:g.100883488T>C	GRCh38
NC_000014.8:g.101349825T>C , CM000676.1:g.101349825T>C	GRCh37
NC_000014.7:g.100419578T>C	NCBI36
NG_045001.1:g.6360A>G
NG_045000.5:g.52220T>C
NG_045000.6:g.52220T>C
NG_045001.2:g.25235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1301A>G MANE Select	ENSP00000497482.1:p.Asp434Gly
ENST00000534062.1:c.1301A>G	ENSP00000435342.1:p.Asp434Gly
NM_001134888.2:c.1301A>G	NP_001128360.1:p.Asp434Gly
NM_001134888.3:c.1301A>G MANE Select	NP_001128360.1:p.Asp434Gly