Canonical Allele Identifier: CA563059431
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs767928697
gnomAD v2: 5-134364462-G-T
gnomAD v3: 5-135028772-G-T
gnomAD v4: 5-135028772-G-T
MyVariant Identifiers: chr5:g.134364462G>T (hg19) chr5:g.135028772G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028772G>T , CM000667.2:g.135028772G>T GRCh38
NC_000005.9:g.134364462G>T , CM000667.1:g.134364462G>T GRCh37
NC_000005.8:g.134392361G>T NCBI36
NG_012114.1:g.10503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*7C>A MANE Select ENSP00000265340.6:n.*7C>A
ENST00000265340.11:c.*7C>A ENSP00000265340.6:n.*7C>A
ENST00000506438.5:c.*7C>A ENSP00000427542.1:n.*7C>A
NM_002653.4:c.*7C>A NP_002644.4:n.*7C>A
NM_002653.5:c.*7C>A MANE Select NP_002644.4:n.*7C>A
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