Canonical Allele Identifier: CA9323260

Gene: NCAN

Linked Data

• dbSNP Id: rs2228603
• ExAC: 19:19329924 C / T
• gnomAD v2: 19-19329924-C-T
• gnomAD v3: 19-19219115-C-T
• gnomAD v4: 19-19219115-C-T
• MyVariant Identifiers: chr19:g.19329924C>T (hg19) ; chr19:g.19219115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19219115C>T , CM000681.2:g.19219115C>T	GRCh38
NC_000019.9:g.19329924C>T , CM000681.1:g.19329924C>T	GRCh37
NC_000019.8:g.19190924C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000252575.11:c.274C>T MANE Select	ENSP00000252575.4:p.Pro92Ser
ENST00000252575.10:c.274C>T	ENSP00000252575.4:p.Pro92Ser
NM_004386.2:c.274C>T	NP_004377.2:p.Pro92Ser
XM_005259747.1:c.274C>T	XP_005259804.1:p.Pro92Ser
NM_004386.3:c.274C>T MANE Select	NP_004377.2:p.Pro92Ser