Canonical Allele Identifier: CA17879975
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs1032306643
gnomAD v3: 1-10973137-C-A
gnomAD v4: 1-10973137-C-A
MyVariant Identifiers: chr1:g.11033194C>A (hg19) chr1:g.10973137C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10973137C>A , CM000663.2:g.10973137C>A GRCh38
NC_000001.10:g.11033194C>A , CM000663.1:g.11033194C>A GRCh37
NC_000001.9:g.10955781C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377004.9:c.127+3019G>T MANE Select ENSP00000366203.4:n.127+3019G>T
ENST00000377004.8:c.127+3019G>T ENSP00000366203.4:n.127+3019G>T
ENST00000520253.1:c.60+3019G>T
NM_001170754.1:c.127+3019G>T NP_001164225.1:n.127+3019G>T
NM_001170754.2:c.127+3019G>T MANE Select NP_001164225.1:n.127+3019G>T
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