Canonical Allele Identifier: CA337438221
Gene:
MyVariant.info:
GRCh38 chrY:g.2800415T>C
GRCh37 chrY:g.2668456T>C
gnomAD v3:
Y:2800415 T / C
gnomAD v4:
chrY-2800415-T-C
Joint Max Group AF 0.95210131 (EAS)
Genomes Max Group AF 0.95210131 (EAS)
dbSNP:
2058276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2800415T>C , CM000686.2:g.2800415T>C GRCh38
NC_000024.9:g.2668456T>C , CM000686.1:g.2668456T>C GRCh37
NC_000024.8:g.2728456T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+25676T>C
ENST00000681787.1:n.106+25676T>C
ENST00000681940.1:n.106+25676T>C
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