Canonical Allele Identifier: CA440253922
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88532096A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610944A>C , CM000666.2:g.87610944A>C GRCh38
NC_000004.11:g.88532096A>C , CM000666.1:g.88532096A>C GRCh37
NC_000004.10:g.88751120A>C NCBI36
NG_011595.1:g.7416A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.36A>C MANE Select ENSP00000498766.1:p.Val12=
ENST00000282478.7:c.36A>C ENSP00000282478.7:p.Val12=
ENST00000399271.5:c.36A>C ENSP00000382213.1:p.Val12=
NM_014208.3:c.36A>C MANE Select NP_055023.2:p.Val12=