Canonical Allele Identifier: CA1081831105
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752385236
gnomAD v3: 5-135028402-T-C
gnomAD v4: 5-135028402-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028402T>C , CM000667.2:g.135028402T>C GRCh38
NC_000005.9:g.134364092T>C , CM000667.1:g.134364092T>C GRCh37
NC_000005.8:g.134391991T>C NCBI36
NG_012114.1:g.10873A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*377A>G MANE Select ENSP00000265340.6:n.*377A>G
ENST00000265340.11:c.*377A>G ENSP00000265340.6:n.*377A>G
NM_002653.4:c.*377A>G NP_002644.4:n.*377A>G
NM_002653.5:c.*377A>G MANE Select NP_002644.4:n.*377A>G
Search 100 bp 5'
Search 100 bp 3'