Canonical Allele Identifier: CA1642368

Gene: SIX3

Linked Data

• dbSNP Id: rs754585710
• ExAC: 2:45170026 C / T
• gnomAD v2: 2-45170026-C-T
• gnomAD v3: 2-44942887-C-T
• gnomAD v4: 2-44942887-C-T
• MyVariant Identifiers: chr2:g.45170026C>T (hg19) ; chr2:g.44942887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942887C>T , CM000664.2:g.44942887C>T	GRCh38
NC_000002.11:g.45170026C>T , CM000664.1:g.45170026C>T	GRCh37
NC_000002.10:g.45023530C>T	NCBI36
NG_016222.1:g.5990C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260653.5:c.783C>T MANE Select	ENSP00000260653.3:p.Asp261=
ENST00000260653.4:c.783C>T	ENSP00000260653.3:p.Asp261=
NM_005413.3:c.783C>T	NP_005404.1:p.Asp261=
XM_011533042.1:c.783C>T	XP_011531344.1:p.Asp261=
NM_005413.4:c.783C>T MANE Select	NP_005404.1:p.Asp261=