Canonical Allele Identifier: CA8539374

Gene: NR1D1 THRA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40093295C>T , CM000679.2:g.40093295C>T	GRCh38
NC_000017.10:g.38249548C>T , CM000679.1:g.38249548C>T	GRCh37
NC_000017.9:g.35503074C>T	NCBI36
NG_023345.1:g.36103C>T
NG_033084.1:g.12431G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021724.5:c.1646-13G>A (NR1D1) MANE Select	NP_068370.1:n.1646-13G>A
ENST00000246672.4:c.1646-13G>A (NR1D1) MANE Select	ENSP00000246672.3:n.1646-13G>A
NM_001190918.1:c.1269C>T (THRA)	NP_001177847.1:p.Asp423=
NM_001190918.2:c.1269C>T (THRA)	NP_001177847.1:p.Asp423=
NM_001190919.1:c.1386C>T (THRA)	NP_001177848.1:p.Asp462=
NM_001190919.2:c.1386C>T (THRA)	NP_001177848.1:p.Asp462=
NM_003250.5:c.1386C>T (THRA)	NP_003241.2:p.Asp462=
NM_003250.6:c.1386C>T (THRA)	NP_003241.2:p.Asp462=
NM_021724.4:c.1646-13G>A (NR1D1)	NP_068370.1:n.1646-13G>A
ENST00000246672.3:c.1646-13G>A (NR1D1)	ENSP00000246672.3:n.1646-13G>A
ENST00000264637.8:c.1386C>T (THRA)	ENSP00000264637.4:p.Asp462=
ENST00000394121.8:c.1386C>T (THRA)	ENSP00000377679.4:p.Asp462=
ENST00000584985.5:c.1269C>T (THRA)	ENSP00000463466.1:p.Asp423=