Canonical Allele Identifier: CA361027522
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028943-C-A
COSMIC: COSM337910
MyVariant Identifiers: chr5:g.134364633C>A (hg19) chr5:g.135028943C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028943C>A , CM000667.2:g.135028943C>A GRCh38
NC_000005.9:g.134364633C>A , CM000667.1:g.134364633C>A GRCh37
NC_000005.8:g.134392532C>A NCBI36
NG_012114.1:g.10332G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.781G>T MANE Select ENSP00000265340.6:p.Ala261Ser
ENST00000265340.11:c.781G>T ENSP00000265340.6:p.Ala261Ser
ENST00000506438.5:c.781G>T ENSP00000427542.1:p.Ala261Ser
NM_002653.4:c.781G>T NP_002644.4:p.Ala261Ser
NM_002653.5:c.781G>T MANE Select NP_002644.4:p.Ala261Ser
Search 100 bp 5'
Search 100 bp 3'