Canonical Allele Identifier: CA379513967
Gene: SPTY2D1 HGNC NCBI

Linked Data

dbSNP Id: rs1322997797
gnomAD v3: 11-18611478-T-A
gnomAD v4: 11-18611478-T-A
MyVariant Identifiers: chr11:g.18633025T>A (hg19) chr11:g.18611478T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611478T>A , CM000673.2:g.18611478T>A GRCh38
NC_000011.9:g.18633025T>A , CM000673.1:g.18633025T>A GRCh37
NC_000011.8:g.18589601T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336349.6:c.1963A>T MANE Select ENSP00000337991.5:p.Ser655Cys
ENST00000336349.5:c.1963A>T ENSP00000337991.5:p.Ser655Cys
NM_194285.2:c.1963A>T NP_919261.2:p.Ser655Cys
XM_011519919.1:c.1711A>T XP_011518221.1:p.Ser571Cys
XM_011519919.2:c.1711A>T XP_011518221.1:p.Ser571Cys
NM_194285.3:c.1963A>T MANE Select NP_919261.2:p.Ser655Cys
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