Canonical Allele Identifier: CA448716616

Gene: DSP

Linked Data

• dbSNP Id: rs1759561265
• gnomAD v4: 6-7584435-A-G
• MyVariant Identifiers: chr6:g.7584668A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584435A>G , CM000668.2:g.7584435A>G	GRCh38
NC_000006.11:g.7584668A>G , CM000668.1:g.7584668A>G	GRCh37
NC_000006.10:g.7529667A>G	NCBI36
NG_008803.1:g.47799A>G , LRG_423:g.47799A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5844A>G	ENSP00000518230.1:p.Ala1948=
ENST00000379802.8:c.7173A>G MANE Select	ENSP00000369129.3:p.Ala2391=
ENST00000379802.7:c.7173A>G	ENSP00000369129.3:p.Ala2391=
ENST00000418664.2:c.5376A>G	ENSP00000396591.2:p.Ala1792=
NM_001008844.1:c.5376A>G	NP_001008844.1:p.Ala1792=
NM_004415.2:c.7173A>G , LRG_423t1:c.7173A>G	NP_004406.2:p.Ala2391=
XM_011514323.1:c.5844A>G	XP_011512625.1:p.Ala1948=
NM_001008844.2:c.5376A>G	NP_001008844.1:p.Ala1792=
NM_001319034.1:c.5844A>G	NP_001305963.1:p.Ala1948=
NM_004415.3:c.7173A>G	NP_004406.2:p.Ala2391=
NM_004415.4:c.7173A>G MANE Select	NP_004406.2:p.Ala2391=
NM_001008844.3:c.5376A>G	NP_001008844.1:p.Ala1792=
NM_001319034.2:c.5844A>G	NP_001305963.1:p.Ala1948=