Canonical Allele Identifier: CA804232235
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1486022633
gnomAD v3: 5-135028389-C-G
gnomAD v4: 5-135028389-C-G
MyVariant Identifiers: chr5:g.134364079C>G (hg19) chr5:g.135028389C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028389C>G , CM000667.2:g.135028389C>G GRCh38
NC_000005.9:g.134364079C>G , CM000667.1:g.134364079C>G GRCh37
NC_000005.8:g.134391978C>G NCBI36
NG_012114.1:g.10886G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*390G>C MANE Select ENSP00000265340.6:n.*390G>C
ENST00000265340.11:c.*390G>C ENSP00000265340.6:n.*390G>C
NM_002653.4:c.*390G>C NP_002644.4:n.*390G>C
NM_002653.5:c.*390G>C MANE Select NP_002644.4:n.*390G>C
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