Canonical Allele Identifier: CA3937265

Gene: SIM1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.100448693T>G , CM000668.2:g.100448693T>G	GRCh38
NC_000006.11:g.100896569T>G , CM000668.1:g.100896569T>G	GRCh37
NC_000006.10:g.101003290T>G	NCBI36
NG_008230.1:g.19983A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005068.3:c.544-15A>C MANE Select	NP_005059.2:n.544-15A>C
ENST00000369208.8:c.544-15A>C MANE Select	ENSP00000358210.4:n.544-15A>C
NM_001374769.1:c.544-15A>C	NP_001361698.1:n.544-15A>C
NM_005068.2:c.544-15A>C	NP_005059.2:n.544-15A>C
ENST00000262901.4:c.544-15A>C	ENSP00000262901.4:n.544-15A>C
ENST00000369208.7:c.544-15A>C	ENSP00000358210.3:n.544-15A>C
XM_005267100.2:c.544-15A>C	XP_005267157.1:n.544-15A>C
XM_011536072.1:c.544-15A>C	XP_011534374.1:n.544-15A>C
XM_011536072.2:c.544-15A>C	XP_011534374.1:n.544-15A>C
XM_011536073.1:c.544-15A>C	XP_011534375.1:n.544-15A>C
XM_017011197.1:c.544-15A>C	XP_016866686.1:n.544-15A>C