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ClinGen Allele Registry
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Canonical Allele Identifier:
CA347134258
Community Standard Title: NM_032208.3(ANTXR1):c.1434+1G>A
Gene: ANTXR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.69193416G>A , CM000664.2:g.69193416G>A
GRCh38
NC_000002.11:g.69420548G>A , CM000664.1:g.69420548G>A
GRCh37
NC_000002.10:g.69274052G>A
NCBI36
NG_012649.1:g.185273G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_032208.3:c.1434+1G>A
MANE Select
NP_115584.1:n.1434+1G>A
ENST00000303714.9:c.1434+1G>A
MANE Select
ENSP00000301945.4:n.1434+1G>A
NM_032208.2:c.1434+1G>A
NP_115584.1:n.1434+1G>A
ENST00000303714.8:c.1434+1G>A
ENSP00000301945.4:n.1434+1G>A
XM_011533124.1:c.1434+1G>A
XP_011531426.1:n.1434+1G>A
XR_939725.1:n.1581+1G>A
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