Canonical Allele Identifier: CA3417519

Gene: PITX1

Linked Data

• ClinVar Variation Id: 2986911
• ClinVar RCV Id: RCV003846566
• dbSNP Id: rs775077362
• ExAC: 5:134364499 C / T
• gnomAD v2: 5-134364499-C-T
• gnomAD v4: 5-135028809-C-T
• MyVariant Identifiers: chr5:g.134364499C>T (hg19) ; chr5:g.135028809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028809C>T , CM000667.2:g.135028809C>T	GRCh38
NC_000005.9:g.134364499C>T , CM000667.1:g.134364499C>T	GRCh37
NC_000005.8:g.134392398C>T	NCBI36
NG_012114.1:g.10466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.915G>A MANE Select	ENSP00000265340.6:p.Ser305=
ENST00000265340.11:c.915G>A	ENSP00000265340.6:p.Ser305=
ENST00000506438.5:c.915G>A	ENSP00000427542.1:p.Ser305=
NM_002653.4:c.915G>A	NP_002644.4:p.Ser305=
NM_002653.5:c.915G>A MANE Select	NP_002644.4:p.Ser305=