Canonical Allele Identifier: CA2675353385
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028500-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028500A>C , CM000667.2:g.135028500A>C GRCh38
NC_000005.9:g.134364190A>C , CM000667.1:g.134364190A>C GRCh37
NC_000005.8:g.134392089A>C NCBI36
NG_012114.1:g.10775T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*279T>G MANE Select ENSP00000265340.6:n.*279T>G
ENST00000265340.11:c.*279T>G ENSP00000265340.6:n.*279T>G
NM_002653.4:c.*279T>G NP_002644.4:n.*279T>G
NM_002653.5:c.*279T>G MANE Select NP_002644.4:n.*279T>G
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