Canonical Allele Identifier: CA448715964
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7584440C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584207C>T , CM000668.2:g.7584207C>T GRCh38
NC_000006.11:g.7584440C>T , CM000668.1:g.7584440C>T GRCh37
NC_000006.10:g.7529439C>T NCBI36
NG_008803.1:g.47571C>T , LRG_423:g.47571C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5616C>T ENSP00000518230.1:p.Ala1872=
ENST00000379802.8:c.6945C>T MANE Select ENSP00000369129.3:p.Ala2315=
ENST00000379802.7:c.6945C>T ENSP00000369129.3:p.Ala2315=
ENST00000418664.2:c.5148C>T ENSP00000396591.2:p.Ala1716=
NM_001008844.1:c.5148C>T NP_001008844.1:p.Ala1716=
NM_004415.2:c.6945C>T , LRG_423t1:c.6945C>T NP_004406.2:p.Ala2315=
XM_011514323.1:c.5616C>T XP_011512625.1:p.Ala1872=
NM_001008844.2:c.5148C>T NP_001008844.1:p.Ala1716=
NM_001319034.1:c.5616C>T NP_001305963.1:p.Ala1872=
NM_004415.3:c.6945C>T NP_004406.2:p.Ala2315=
NM_004415.4:c.6945C>T MANE Select NP_004406.2:p.Ala2315=
NM_001008844.3:c.5148C>T NP_001008844.1:p.Ala1716=
NM_001319034.2:c.5616C>T NP_001305963.1:p.Ala1872=