Canonical Allele Identifier: CA379513992
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633030G>C (hg19) chr11:g.18611483G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611483G>C , CM000673.2:g.18611483G>C GRCh38
NC_000011.9:g.18633030G>C , CM000673.1:g.18633030G>C GRCh37
NC_000011.8:g.18589606G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1958C>G MANE Select ENSP00000337991.5:p.Ala653Gly
ENST00000336349.5:c.1958C>G ENSP00000337991.5:p.Ala653Gly
NM_194285.2:c.1958C>G NP_919261.2:p.Ala653Gly
XM_011519919.1:c.1706C>G XP_011518221.1:p.Ala569Gly
XM_011519919.2:c.1706C>G XP_011518221.1:p.Ala569Gly
NM_194285.3:c.1958C>G MANE Select NP_919261.2:p.Ala653Gly
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