Canonical Allele Identifier: CA144530188

Gene: SIM1

Linked Data

• dbSNP Id: rs74726213
• MyVariant Identifiers: chr6:g.100838419C>A (hg19) ; chr6:g.100390543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100390543C>A , CM000668.2:g.100390543C>A	GRCh38
NC_000006.11:g.100838419C>A , CM000668.1:g.100838419C>A	GRCh37
NC_000006.10:g.100945140C>A	NCBI36
NG_008230.1:g.78133G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369208.8:c.2119G>T MANE Select	ENSP00000358210.4:p.Asp707Tyr
ENST00000262901.4:c.2119G>T	ENSP00000262901.4:p.Asp707Tyr
ENST00000369208.7:c.2119G>T	ENSP00000358210.3:p.Asp707Tyr
NM_005068.2:c.2119G>T	NP_005059.2:p.Asp707Tyr
XM_005267100.2:c.2119G>T	XP_005267157.1:p.Asp707Tyr
XM_017011197.1:c.2119G>T	XP_016866686.1:p.Asp707Tyr
NM_001374769.1:c.2119G>T	NP_001361698.1:p.Asp707Tyr
NM_005068.3:c.2119G>T MANE Select	NP_005059.2:p.Asp707Tyr