Canonical Allele Identifier: CA379513965
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633024C>T (hg19) chr11:g.18611477C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611477C>T , CM000673.2:g.18611477C>T GRCh38
NC_000011.9:g.18633024C>T , CM000673.1:g.18633024C>T GRCh37
NC_000011.8:g.18589600C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1964G>A MANE Select ENSP00000337991.5:p.Ser655Asn
ENST00000336349.5:c.1964G>A ENSP00000337991.5:p.Ser655Asn
NM_194285.2:c.1964G>A NP_919261.2:p.Ser655Asn
XM_011519919.1:c.1712G>A XP_011518221.1:p.Ser571Asn
XM_011519919.2:c.1712G>A XP_011518221.1:p.Ser571Asn
NM_194285.3:c.1964G>A MANE Select NP_919261.2:p.Ser655Asn
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