Canonical Allele Identifier: CA12364934

Gene: DSP

Linked Data

• dbSNP Id: rs2744371
• gnomAD v2: 6-7554174-A-C
• gnomAD v3: 6-7553941-A-C
• gnomAD v4: 6-7553941-A-C
• MyVariant Identifiers: chr6:g.7554174A>C (hg19) ; chr6:g.7553941A>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7553941A>C , CM000668.2:g.7553941A>C	GRCh38
NC_000006.11:g.7554174A>C , CM000668.1:g.7554174A>C	GRCh37
NC_000006.10:g.7499173A>C	NCBI36
NG_008803.1:g.17305A>C , LRG_423:g.17305A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683682.2:c.171-1777A>C	ENSP00000508162.2:n.171-1777A>C
ENST00000710359.1:c.171-1777A>C	ENSP00000518230.1:n.171-1777A>C
ENST00000683563.1:n.63-1777A>C
ENST00000683682.1:c.66-1777A>C	ENSP00000508162.1:n.66-1777A>C
ENST00000379802.8:c.171-1777A>C MANE Select	ENSP00000369129.3:n.171-1777A>C
ENST00000379802.7:c.171-1777A>C	ENSP00000369129.3:n.171-1777A>C
ENST00000418664.2:c.171-1777A>C	ENSP00000396591.2:n.171-1777A>C
NM_001008844.1:c.171-1777A>C	NP_001008844.1:n.171-1777A>C
NM_004415.2:c.171-1777A>C , LRG_423t1:c.171-1777A>C	NP_004406.2:n.171-1777A>C
XM_011514323.1:c.171-1777A>C	XP_011512625.1:n.171-1777A>C
NM_001008844.2:c.171-1777A>C	NP_001008844.1:n.171-1777A>C
NM_001319034.1:c.171-1777A>C	NP_001305963.1:n.171-1777A>C
NM_004415.3:c.171-1777A>C	NP_004406.2:n.171-1777A>C
NM_004415.4:c.171-1777A>C MANE Select	NP_004406.2:n.171-1777A>C
NM_001008844.3:c.171-1777A>C	NP_001008844.1:n.171-1777A>C
NM_001319034.2:c.171-1777A>C	NP_001305963.1:n.171-1777A>C