Canonical Allele Identifier: CA10576693

Gene: DSP

Linked Data

• ClinVar Variation Id: 228652
• ClinVar RCV Id: RCV000221921
• dbSNP Id: rs876657801
• MyVariant Identifiers: chr6:g.7565709A>G (hg19) ; chr6:g.7565476A>G (hg38)
• PubMed: PMID:12373648 ; PMID:15941723 ; PMID:19279339 ; PMID:21723241 ; PMID:24070718

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565476A>G , CM000668.2:g.7565476A>G	GRCh38
NC_000006.11:g.7565709A>G , CM000668.1:g.7565709A>G	GRCh37
NC_000006.10:g.7510708A>G	NCBI36
NG_008803.1:g.28840A>G , LRG_423:g.28840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.895A>G	ENSP00000518230.1:p.Ser299Gly
ENST00000682228.1:n.219A>G
ENST00000379802.8:c.895A>G MANE Select	ENSP00000369129.3:p.Ser299Gly
ENST00000379802.7:c.895A>G	ENSP00000369129.3:p.Ser299Gly
ENST00000418664.2:c.895A>G	ENSP00000396591.2:p.Ser299Gly
ENST00000506617.1:n.413A>G
NM_001008844.1:c.895A>G	NP_001008844.1:p.Ser299Gly
NM_004415.2:c.895A>G , LRG_423t1:c.895A>G	NP_004406.2:p.Ser299Gly
XM_011514323.1:c.895A>G	XP_011512625.1:p.Ser299Gly
NM_001008844.2:c.895A>G	NP_001008844.1:p.Ser299Gly
NM_001319034.1:c.895A>G	NP_001305963.1:p.Ser299Gly
NM_004415.3:c.895A>G	NP_004406.2:p.Ser299Gly
NM_004415.4:c.895A>G MANE Select	NP_004406.2:p.Ser299Gly
NM_001008844.3:c.895A>G	NP_001008844.1:p.Ser299Gly
NM_001319034.2:c.895A>G	NP_001305963.1:p.Ser299Gly