Canonical Allele Identifier: CA365297637

Gene: SIM1

Linked Data

• MyVariant Identifiers: chr6:g.100838424T>G (hg19) ; chr6:g.100390548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100390548T>G , CM000668.2:g.100390548T>G	GRCh38
NC_000006.11:g.100838424T>G , CM000668.1:g.100838424T>G	GRCh37
NC_000006.10:g.100945145T>G	NCBI36
NG_008230.1:g.78128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369208.8:c.2114A>C MANE Select	ENSP00000358210.4:p.Tyr705Ser
ENST00000262901.4:c.2114A>C	ENSP00000262901.4:p.Tyr705Ser
ENST00000369208.7:c.2114A>C	ENSP00000358210.3:p.Tyr705Ser
NM_005068.2:c.2114A>C	NP_005059.2:p.Tyr705Ser
XM_005267100.2:c.2114A>C	XP_005267157.1:p.Tyr705Ser
XM_017011197.1:c.2114A>C	XP_016866686.1:p.Tyr705Ser
NM_001374769.1:c.2114A>C	NP_001361698.1:p.Tyr705Ser
NM_005068.3:c.2114A>C MANE Select	NP_005059.2:p.Tyr705Ser