Canonical Allele Identifier: CA562836054

Gene: PITX1

Linked Data

• dbSNP Id: rs1175855789
• gnomAD v2: 5-134364229-C-G
• gnomAD v3: 5-135028539-C-G
• gnomAD v4: 5-135028539-C-G
• MyVariant Identifiers: chr5:g.134364229C>G (hg19) ; chr5:g.135028539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028539C>G , CM000667.2:g.135028539C>G	GRCh38
NC_000005.9:g.134364229C>G , CM000667.1:g.134364229C>G	GRCh37
NC_000005.8:g.134392128C>G	NCBI36
NG_012114.1:g.10736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*240G>C MANE Select	ENSP00000265340.6:n.*240G>C
ENST00000265340.11:c.*240G>C	ENSP00000265340.6:n.*240G>C
NM_002653.4:c.*240G>C	NP_002644.4:n.*240G>C
NM_002653.5:c.*240G>C MANE Select	NP_002644.4:n.*240G>C