Canonical Allele Identifier: CA005770
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 180327
ClinVar RCV Id: RCV000157194
dbSNP Id: rs730880083
gnomAD v2: 6-7579622-G-T
gnomAD v4: 6-7579389-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579389G>T , CM000668.2:g.7579389G>T GRCh38
NC_000006.11:g.7579622G>T , CM000668.1:g.7579622G>T GRCh37
NC_000006.10:g.7524621G>T NCBI36
NG_008803.1:g.42753G>T , LRG_423:g.42753G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3199G>T ENSP00000518230.1:p.Ala1067Ser
ENST00000379802.8:c.3199G>T MANE Select ENSP00000369129.3:p.Ala1067Ser
ENST00000379802.7:c.3199G>T ENSP00000369129.3:p.Ala1067Ser
ENST00000418664.2:c.3199G>T ENSP00000396591.2:p.Ala1067Ser
NM_001008844.1:c.3199G>T NP_001008844.1:p.Ala1067Ser
NM_004415.2:c.3199G>T , LRG_423t1:c.3199G>T NP_004406.2:p.Ala1067Ser
XM_011514323.1:c.3199G>T XP_011512625.1:p.Ala1067Ser
NM_001008844.2:c.3199G>T NP_001008844.1:p.Ala1067Ser
NM_001319034.1:c.3199G>T NP_001305963.1:p.Ala1067Ser
NM_004415.3:c.3199G>T NP_004406.2:p.Ala1067Ser
NM_004415.4:c.3199G>T MANE Select NP_004406.2:p.Ala1067Ser
NM_001008844.3:c.3199G>T NP_001008844.1:p.Ala1067Ser
NM_001319034.2:c.3199G>T NP_001305963.1:p.Ala1067Ser