Canonical Allele Identifier: CA384055988

Gene: RERG

Linked Data

• ClinVar Variation Id: 522885
• ClinVar RCV Id: RCV000626076
• dbSNP Id: rs1555118541
• MyVariant Identifiers: chr12:g.15262394A>G (hg19) ; chr12:g.15109460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15109460A>G , CM000674.2:g.15109460A>G	GRCh38
NC_000012.11:g.15262394A>G , CM000674.1:g.15262394A>G	GRCh37
NC_000012.10:g.15153661A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256953.6:c.250T>C MANE Select	ENSP00000256953.2:p.Tyr84His
ENST00000536465.5:c.250T>C	ENSP00000438280.1:p.Tyr84His
ENST00000538313.5:c.250T>C	ENSP00000441505.1:p.Tyr84His
ENST00000545567.5:c.289T>C	ENSP00000439532.1:p.Tyr97His
ENST00000546331.5:c.193T>C	ENSP00000444485.1:p.Tyr65His
NM_001190726.1:c.193T>C	NP_001177655.1:p.Tyr65His
NM_032918.2:c.250T>C	NP_116307.1:p.Tyr84His
XM_011520870.1:c.241T>C	XP_011519172.1:p.Tyr81His
XM_017020121.2:c.241T>C	XP_016875610.1:p.Tyr81His
XR_001749017.1:n.406+10916A>G
XR_001749018.1:n.406+10916A>G
XR_001749019.1:n.406+10916A>G
NM_032918.3:c.250T>C MANE Select	NP_116307.1:p.Tyr84His
NM_001190726.2:c.193T>C	NP_001177655.1:p.Tyr65His