Canonical Allele Identifier: CA393032609

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 661687
• ClinVar RCV Id: RCV000819161
• dbSNP Id: rs1595956148
• gnomAD v4: 15-71811821-C-T
• MyVariant Identifiers: chr15:g.72104161C>T (hg19) ; chr15:g.71811821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811821C>T , CM000677.2:g.71811821C>T	GRCh38
NC_000015.9:g.72104161C>T , CM000677.1:g.72104161C>T	GRCh37
NC_000015.8:g.69891215C>T	NCBI36
NG_009113.2:g.6267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.301C>T MANE Select	ENSP00000482504.1:p.Gln101Ter
ENST00000617575.4:c.301C>T	ENSP00000482504.1:p.Gln101Ter
ENST00000621098.1:c.301C>T	ENSP00000479962.1:p.Gln101Ter
ENST00000621736.4:c.37C>T	ENSP00000479254.1:p.Gln13Ter
NM_014249.3:c.301C>T	NP_055064.1:p.Gln101Ter
NM_016346.3:c.301C>T	NP_057430.1:p.Gln101Ter
XM_011521146.1:c.37C>T	XP_011519448.1:p.Gln13Ter
NM_014249.4:c.301C>T MANE Select	NP_055064.1:p.Gln101Ter
NM_016346.4:c.301C>T	NP_057430.1:p.Gln101Ter