Canonical Allele Identifier: CA389911257

Gene: SIX1

Linked Data

• dbSNP Id: rs1895013362
• gnomAD v4: 14-60649188-A-G
• MyVariant Identifiers: chr14:g.61115906A>G (hg19) ; chr14:g.60649188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649188A>G , CM000676.2:g.60649188A>G	GRCh38
NC_000014.8:g.61115906A>G , CM000676.1:g.61115906A>G	GRCh37
NC_000014.7:g.60185659A>G	NCBI36
NG_008231.1:g.5250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.2T>C MANE Select	ENSP00000494686.1:p.Met1Thr
ENST00000247182.6:c.2T>C	ENSP00000247182.5:p.Met1Thr
ENST00000553535.2:n.249-2611T>C
ENST00000554986.2:c.42-2611T>C	ENSP00000452700.2:n.42-2611T>C
ENST00000555955.3:n.1198-2611T>C
NM_005982.3:c.2T>C	NP_005973.1:p.Met1Thr
XM_017021602.2:c.2T>C	XP_016877091.1:p.Met1Thr
NM_005982.4:c.2T>C MANE Select	NP_005973.1:p.Met1Thr