Canonical Allele Identifier: CA379513994

Gene: SPTY2D1

Linked Data

• dbSNP Id: rs771362913
• MyVariant Identifiers: chr11:g.18633031C>A (hg19) ; chr11:g.18611484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18611484C>A , CM000673.2:g.18611484C>A	GRCh38
NC_000011.9:g.18633031C>A , CM000673.1:g.18633031C>A	GRCh37
NC_000011.8:g.18589607C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000336349.6:c.1957G>T MANE Select	ENSP00000337991.5:p.Ala653Ser
ENST00000336349.5:c.1957G>T	ENSP00000337991.5:p.Ala653Ser
NM_194285.2:c.1957G>T	NP_919261.2:p.Ala653Ser
XM_011519919.1:c.1705G>T	XP_011518221.1:p.Ala569Ser
XM_011519919.2:c.1705G>T	XP_011518221.1:p.Ala569Ser
NM_194285.3:c.1957G>T MANE Select	NP_919261.2:p.Ala653Ser