Canonical Allele Identifier: CA365297629

Gene: SIM1

Linked Data

• MyVariant Identifiers: chr6:g.100838421A>T (hg19) ; chr6:g.100390545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100390545A>T , CM000668.2:g.100390545A>T	GRCh38
NC_000006.11:g.100838421A>T , CM000668.1:g.100838421A>T	GRCh37
NC_000006.10:g.100945142A>T	NCBI36
NG_008230.1:g.78131T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369208.8:c.2117T>A MANE Select	ENSP00000358210.4:p.Phe706Tyr
ENST00000262901.4:c.2117T>A	ENSP00000262901.4:p.Phe706Tyr
ENST00000369208.7:c.2117T>A	ENSP00000358210.3:p.Phe706Tyr
NM_005068.2:c.2117T>A	NP_005059.2:p.Phe706Tyr
XM_005267100.2:c.2117T>A	XP_005267157.1:p.Phe706Tyr
XM_017011197.1:c.2117T>A	XP_016866686.1:p.Phe706Tyr
NM_001374769.1:c.2117T>A	NP_001361698.1:p.Phe706Tyr
NM_005068.3:c.2117T>A MANE Select	NP_005059.2:p.Phe706Tyr