Canonical Allele Identifier: CA448531293
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7586051C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585818C>A , CM000668.2:g.7585818C>A GRCh38
NC_000006.11:g.7586051C>A , CM000668.1:g.7586051C>A GRCh37
NC_000006.10:g.7531050C>A NCBI36
NG_008803.1:g.49182C>A , LRG_423:g.49182C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.7227C>A ENSP00000518230.1:p.Ala2409=
ENST00000379802.8:c.8556C>A MANE Select ENSP00000369129.3:p.Ala2852=
ENST00000379802.7:c.8556C>A ENSP00000369129.3:p.Ala2852=
ENST00000418664.2:c.6759C>A ENSP00000396591.2:p.Ala2253=
NM_001008844.1:c.6759C>A NP_001008844.1:p.Ala2253=
NM_004415.2:c.8556C>A , LRG_423t1:c.8556C>A NP_004406.2:p.Ala2852=
XM_011514323.1:c.7227C>A XP_011512625.1:p.Ala2409=
NM_001008844.2:c.6759C>A NP_001008844.1:p.Ala2253=
NM_001319034.1:c.7227C>A NP_001305963.1:p.Ala2409=
NM_004415.3:c.8556C>A NP_004406.2:p.Ala2852=
NM_004415.4:c.8556C>A MANE Select NP_004406.2:p.Ala2852=
NM_001008844.3:c.6759C>A NP_001008844.1:p.Ala2253=
NM_001319034.2:c.7227C>A NP_001305963.1:p.Ala2409=