Canonical Allele Identifier: CA15435625
Gene: DCBLD1 HGNC NCBI

Linked Data

dbSNP Id: rs2057314
gnomAD v2: 6-117819357-A-G
gnomAD v3: 6-117498194-A-G
gnomAD v4: 6-117498194-A-G
MyVariant Identifiers: chr6:g.117819357A>G (hg19) chr6:g.117498194A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117498194A>G , CM000668.2:g.117498194A>G GRCh38
NC_000006.11:g.117819357A>G , CM000668.1:g.117819357A>G GRCh37
NC_000006.10:g.117926050A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000338728.10:c.113-5573A>G MANE Select ENSP00000342422.6:n.113-5573A>G
ENST00000296955.12:c.113-5573A>G ENSP00000296955.8:n.113-5573A>G
ENST00000338728.9:c.113-5573A>G ENSP00000342422.5:n.113-5573A>G
ENST00000467125.1:c.547+68660T>C ENSP00000487717.1:n.547+68660T>C
ENST00000525483.5:n.345-5573A>G
ENST00000528162.1:n.346-5573A>G
NM_173674.1:c.113-5573A>G NP_775945.1:n.113-5573A>G
XM_005266941.1:c.254-5573A>G XP_005266998.1:n.254-5573A>G
XM_006715463.1:c.254-5573A>G XP_006715526.1:n.254-5573A>G
XM_011535770.1:c.119-5573A>G XP_011534072.1:n.119-5573A>G
XM_011535771.1:c.-44-5573A>G XP_011534073.1:n.-44-5573A>G
XM_011535772.1:c.-44-5573A>G XP_011534074.1:n.-44-5573A>G
XM_011535773.1:c.254-5573A>G XP_011534075.1:n.254-5573A>G
XM_011535774.1:c.254-5573A>G XP_011534076.1:n.254-5573A>G
NM_001366458.1:c.113-5573A>G NP_001353387.1:n.113-5573A>G
NM_001366459.1:c.113-5573A>G NP_001353388.1:n.113-5573A>G
NM_001366460.1:c.113-5573A>G NP_001353389.1:n.113-5573A>G
NM_173674.2:c.113-5573A>G NP_775945.1:n.113-5573A>G
NR_158983.1:n.221-5573A>G
XM_011535773.2:c.254-5573A>G XP_011534075.1:n.254-5573A>G
XM_011535774.2:c.254-5573A>G XP_011534076.1:n.254-5573A>G
XM_017010775.2:c.-44-5573A>G XP_016866264.1:n.-44-5573A>G
NM_001366458.2:c.113-5573A>G MANE Select NP_001353387.1:n.113-5573A>G
NM_001366459.2:c.113-5573A>G NP_001353388.1:n.113-5573A>G
NM_001366460.2:c.113-5573A>G NP_001353389.1:n.113-5573A>G
NR_158983.2:n.221-5573A>G
NM_173674.3:c.113-5573A>G NP_775945.1:n.113-5573A>G
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