Canonical Allele Identifier: CA997568

Gene: ALX3 STRIP1

Linked Data

• dbSNP Id: rs780197581
• ExAC: 1:110607190 A / G
• gnomAD v2: 1-110607190-A-G
• gnomAD v3: 1-110064568-A-G
• gnomAD v4: 1-110064568-A-G
• MyVariant Identifiers: chr1:g.110607190A>G (hg19) ; chr1:g.110064568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110064568A>G , CM000663.2:g.110064568A>G	GRCh38
NC_000001.10:g.110607190A>G , CM000663.1:g.110607190A>G	GRCh37
NC_000001.9:g.110408713A>G	NCBI36
NG_012039.1:g.11133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647563.2:c.594+19T>C (ALX3) MANE Select	ENSP00000497310.1:n.594+19T>C
ENST00000649954.1:c.165+19T>C (ALX3)	ENSP00000497035.1:n.165+19T>C
ENST00000369792.4:c.594+19T>C (ALX3)	ENSP00000358807.3:n.594+19T>C
ENST00000473429.5:n.4214-7887A>G (STRIP1)
NM_006492.2:c.594+19T>C (ALX3)	NP_006483.2:n.594+19T>C
NM_006492.3:c.594+19T>C (ALX3) MANE Select	NP_006483.2:n.594+19T>C