Canonical Allele Identifier: CA562836035
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1397983342
gnomAD v2: 5-134364120-C-T
gnomAD v3: 5-135028430-C-T
gnomAD v4: 5-135028430-C-T
MyVariant Identifiers: chr5:g.134364120C>T (hg19) chr5:g.135028430C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028430C>T , CM000667.2:g.135028430C>T GRCh38
NC_000005.9:g.134364120C>T , CM000667.1:g.134364120C>T GRCh37
NC_000005.8:g.134392019C>T NCBI36
NG_012114.1:g.10845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*349G>A MANE Select ENSP00000265340.6:n.*349G>A
ENST00000265340.11:c.*349G>A ENSP00000265340.6:n.*349G>A
NM_002653.4:c.*349G>A NP_002644.4:n.*349G>A
NM_002653.5:c.*349G>A MANE Select NP_002644.4:n.*349G>A
Search 100 bp 5'
Search 100 bp 3'