Canonical Allele Identifier: CA3466594
Gene: PCDHGA1 HGNC NCBI

Linked Data

dbSNP Id: rs553957112
ExAC: 5:140710607 T / C
gnomAD v2: 5-140710607-T-C
gnomAD v3: 5-141331040-T-C
gnomAD v4: 5-141331040-T-C
MyVariant Identifiers: chr5:g.140710607T>C (hg19) chr5:g.141331040T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331040T>C , CM000667.2:g.141331040T>C GRCh38
NC_000005.9:g.140710607T>C , CM000667.1:g.140710607T>C GRCh37
NC_000005.8:g.140690791T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517417.3:c.356T>C MANE Select ENSP00000431083.1:p.Val119Ala
ENST00000378105.4:c.356T>C ENSP00000367345.3:p.Val119Ala
ENST00000517417.2:c.356T>C ENSP00000431083.1:p.Val119Ala
NM_018912.2:c.356T>C NP_061735.1:p.Val119Ala
NM_031993.1:c.356T>C NP_114382.1:p.Val119Ala
NM_018912.3:c.356T>C MANE Select NP_061735.1:p.Val119Ala
NM_031993.2:c.356T>C NP_114382.1:p.Val119Ala
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