Canonical Allele Identifier: CA34407507
Gene:

Linked Data

dbSNP Id: rs558613317
gnomAD v3: 1-193121934-G-A
gnomAD v4: 1-193121934-G-A
MyVariant Identifiers: chr1:g.193091064G>A (hg19) chr1:g.193121934G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121934G>A , CM000663.2:g.193121934G>A GRCh38
NC_000001.10:g.193091064G>A , CM000663.1:g.193091064G>A GRCh37
NC_000001.9:g.191357687G>A NCBI36
NG_012691.1:g.4977G>A , LRG_507:g.4977G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1723C>T
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