Canonical Allele Identifier: CA440620457
Gene:

Linked Data

gnomAD v4: 4-102501254-G-T
MyVariant Identifiers: chr4:g.103422411G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102501254G>T , CM000666.2:g.102501254G>T GRCh38
NC_000004.11:g.103422411G>T , CM000666.1:g.103422411G>T GRCh37
NC_000004.10:g.103641443G>T NCBI36
NG_050628.1:g.4926G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.638C>A XP_011530769.1:p.Ala213Glu
NR_136202.1:n.48+1185C>A
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