Canonical Allele Identifier: CA446784074
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1223398738
gnomAD v2: 5-134364637-C-A
MyVariant Identifiers: chr5:g.134364637C>A (hg19) chr5:g.135028947C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028947C>A , CM000667.2:g.135028947C>A GRCh38
NC_000005.9:g.134364637C>A , CM000667.1:g.134364637C>A GRCh37
NC_000005.8:g.134392536C>A NCBI36
NG_012114.1:g.10328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.777G>T MANE Select ENSP00000265340.6:p.Pro259=
ENST00000265340.11:c.777G>T ENSP00000265340.6:p.Pro259=
ENST00000506438.5:c.777G>T ENSP00000427542.1:p.Pro259=
NM_002653.4:c.777G>T NP_002644.4:p.Pro259=
NM_002653.5:c.777G>T MANE Select NP_002644.4:p.Pro259=
Search 100 bp 5'
Search 100 bp 3'