Canonical Allele Identifier: CA379513979
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633027T>C (hg19) chr11:g.18611480T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611480T>C , CM000673.2:g.18611480T>C GRCh38
NC_000011.9:g.18633027T>C , CM000673.1:g.18633027T>C GRCh37
NC_000011.8:g.18589603T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1961A>G MANE Select ENSP00000337991.5:p.Lys654Arg
ENST00000336349.5:c.1961A>G ENSP00000337991.5:p.Lys654Arg
NM_194285.2:c.1961A>G NP_919261.2:p.Lys654Arg
XM_011519919.1:c.1709A>G XP_011518221.1:p.Lys570Arg
XM_011519919.2:c.1709A>G XP_011518221.1:p.Lys570Arg
NM_194285.3:c.1961A>G MANE Select NP_919261.2:p.Lys654Arg
Search 100 bp 5'
Search 100 bp 3'