Canonical Allele Identifier: CA363278931

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24357536T>G , CM000668.2:g.24357536T>G GRCh38
NC_000006.11:g.24357764T>G , CM000668.1:g.24357764T>G GRCh37
NC_000006.10:g.24465743T>G NCBI36
NG_012829.1:g.5517A>C
NG_012829.2:g.30757A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274766.2:c.-104T>G (KAAG1) ENSP00000274766.1:n.-104T>G
ENST00000378454.8:c.215A>C (DCDC2) MANE Select ENSP00000367715.3:p.His72Pro
ENST00000274766.1:c.-104T>G (KAAG1) ENSP00000274766.1:n.-104T>G
ENST00000378454.7:c.215A>C (DCDC2) ENSP00000367715.3:p.His72Pro
ENST00000436313.1:c.118A>C (DCDC2)
NM_001195610.1:c.215A>C (DCDC2) NP_001182539.1:p.His72Pro
NM_016356.4:c.215A>C (DCDC2) NP_057440.2:p.His72Pro
NM_181337.3:c.-104T>G (KAAG1) NP_851854.1:n.-104T>G
NM_016356.5:c.215A>C (DCDC2) MANE Select NP_057440.2:p.His72Pro
NM_181337.4:c.-104T>G (KAAG1) NP_851854.1:n.-104T>G
NM_001195610.2:c.215A>C (DCDC2) NP_001182539.1:p.His72Pro
NR_174942.1:n.634T>G (KAAG1)