Canonical Allele Identifier: CA051863

Gene: DSP

Linked Data

• dbSNP Id: rs765481723
• ExAC: 6:7565636 C / G
• gnomAD v2: 6-7565636-C-G
• MyVariant Identifiers: chr6:g.7565636C>G (hg19) ; chr6:g.7565403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565403C>G , CM000668.2:g.7565403C>G	GRCh38
NC_000006.11:g.7565636C>G , CM000668.1:g.7565636C>G	GRCh37
NC_000006.10:g.7510635C>G	NCBI36
NG_008803.1:g.28767C>G , LRG_423:g.28767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.822C>G	ENSP00000518230.1:p.Asn274Lys
ENST00000682228.1:n.146C>G
ENST00000379802.8:c.822C>G MANE Select	ENSP00000369129.3:p.Asn274Lys
ENST00000379802.7:c.822C>G	ENSP00000369129.3:p.Asn274Lys
ENST00000418664.2:c.822C>G	ENSP00000396591.2:p.Asn274Lys
ENST00000506617.1:n.340C>G
NM_001008844.1:c.822C>G	NP_001008844.1:p.Asn274Lys
NM_004415.2:c.822C>G , LRG_423t1:c.822C>G	NP_004406.2:p.Asn274Lys
XM_011514323.1:c.822C>G	XP_011512625.1:p.Asn274Lys
NM_001008844.2:c.822C>G	NP_001008844.1:p.Asn274Lys
NM_001319034.1:c.822C>G	NP_001305963.1:p.Asn274Lys
NM_004415.3:c.822C>G	NP_004406.2:p.Asn274Lys
NM_004415.4:c.822C>G MANE Select	NP_004406.2:p.Asn274Lys
NM_001008844.3:c.822C>G	NP_001008844.1:p.Asn274Lys
NM_001319034.2:c.822C>G	NP_001305963.1:p.Asn274Lys