Canonical Allele Identifier: CA14418698

Gene: PRPSAP2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18850557C>T , CM000679.2:g.18850557C>T	GRCh38
NC_000017.10:g.18753870C>T , CM000679.1:g.18753870C>T	GRCh37
NC_000017.9:g.18694595C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441887.5:c.-33+8193C>T	ENSP00000395127.1:n.-33+8193C>T
XM_011524138.1:c.1319+8193C>T	XP_011522440.1:n.1319+8193C>T