Canonical Allele Identifier: CA3417523
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs761162250
ExAC: 5:134364511 C / T
gnomAD v2: 5-134364511-C-T
gnomAD v3: 5-135028821-C-T
gnomAD v4: 5-135028821-C-T
MyVariant Identifiers: chr5:g.134364511C>T (hg19) chr5:g.135028821C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028821C>T , CM000667.2:g.135028821C>T GRCh38
NC_000005.9:g.134364511C>T , CM000667.1:g.134364511C>T GRCh37
NC_000005.8:g.134392410C>T NCBI36
NG_012114.1:g.10454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.903G>A MANE Select ENSP00000265340.6:p.Gln301=
ENST00000265340.11:c.903G>A ENSP00000265340.6:p.Gln301=
ENST00000506438.5:c.903G>A ENSP00000427542.1:p.Gln301=
NM_002653.4:c.903G>A NP_002644.4:p.Gln301=
NM_002653.5:c.903G>A MANE Select NP_002644.4:p.Gln301=
Search 100 bp 5'
Search 100 bp 3'