Canonical Allele Identifier: CA440253924
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88532099A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610947A>C , CM000666.2:g.87610947A>C GRCh38
NC_000004.11:g.88532099A>C , CM000666.1:g.88532099A>C GRCh37
NC_000004.10:g.88751123A>C NCBI36
NG_011595.1:g.7419A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.39A>C MANE Select ENSP00000498766.1:p.Ala13=
ENST00000282478.7:c.39A>C ENSP00000282478.7:p.Ala13=
ENST00000399271.5:c.39A>C ENSP00000382213.1:p.Ala13=
NM_014208.3:c.39A>C MANE Select NP_055023.2:p.Ala13=