Canonical Allele Identifier: CA2675353290
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs2149558902
gnomAD v4: 5-135028421-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028421A>C , CM000667.2:g.135028421A>C GRCh38
NC_000005.9:g.134364111A>C , CM000667.1:g.134364111A>C GRCh37
NC_000005.8:g.134392010A>C NCBI36
NG_012114.1:g.10854T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*358T>G MANE Select ENSP00000265340.6:n.*358T>G
ENST00000265340.11:c.*358T>G ENSP00000265340.6:n.*358T>G
NM_002653.4:c.*358T>G NP_002644.4:n.*358T>G
NM_002653.5:c.*358T>G MANE Select NP_002644.4:n.*358T>G
Search 100 bp 5'
Search 100 bp 3'