Canonical Allele Identifier: CA365297624

Gene: SIM1

Linked Data

• MyVariant Identifiers: chr6:g.100838419C>T (hg19) ; chr6:g.100390543C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000369208.8:c.2119G>A MANE Select	ENSP00000358210.4:p.Asp707Asn
ENST00000262901.4:c.2119G>A	ENSP00000262901.4:p.Asp707Asn
ENST00000369208.7:c.2119G>A	ENSP00000358210.3:p.Asp707Asn
NM_005068.2:c.2119G>A	NP_005059.2:p.Asp707Asn
XM_005267100.2:c.2119G>A	XP_005267157.1:p.Asp707Asn
XM_017011197.1:c.2119G>A	XP_016866686.1:p.Asp707Asn
NM_001374769.1:c.2119G>A	NP_001361698.1:p.Asp707Asn
NM_005068.3:c.2119G>A MANE Select	NP_005059.2:p.Asp707Asn