Canonical Allele Identifier: CA128009108
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1022811997
gnomAD v3: 5-135028731-G-C
gnomAD v4: 5-135028731-G-C
MyVariant Identifiers: chr5:g.134364421G>C (hg19) chr5:g.135028731G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028731G>C , CM000667.2:g.135028731G>C GRCh38
NC_000005.9:g.134364421G>C , CM000667.1:g.134364421G>C GRCh37
NC_000005.8:g.134392320G>C NCBI36
NG_012114.1:g.10544C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*48C>G MANE Select ENSP00000265340.6:n.*48C>G
ENST00000265340.11:c.*48C>G ENSP00000265340.6:n.*48C>G
ENST00000506438.5:c.*48C>G ENSP00000427542.1:n.*48C>G
NM_002653.4:c.*48C>G NP_002644.4:n.*48C>G
NM_002653.5:c.*48C>G MANE Select NP_002644.4:n.*48C>G
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