Canonical Allele Identifier: CA363278942

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24357542G>C , CM000668.2:g.24357542G>C GRCh38
NC_000006.11:g.24357770G>C , CM000668.1:g.24357770G>C GRCh37
NC_000006.10:g.24465749G>C NCBI36
NG_012829.1:g.5511C>G
NG_012829.2:g.30751C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274766.2:c.-98G>C (KAAG1) ENSP00000274766.1:n.-98G>C
ENST00000378454.8:c.209C>G (DCDC2) MANE Select ENSP00000367715.3:p.Thr70Ser
ENST00000274766.1:c.-98G>C (KAAG1) ENSP00000274766.1:n.-98G>C
ENST00000378454.7:c.209C>G (DCDC2) ENSP00000367715.3:p.Thr70Ser
ENST00000436313.1:c.112C>G (DCDC2)
NM_001195610.1:c.209C>G (DCDC2) NP_001182539.1:p.Thr70Ser
NM_016356.4:c.209C>G (DCDC2) NP_057440.2:p.Thr70Ser
NM_181337.3:c.-98G>C (KAAG1) NP_851854.1:n.-98G>C
NM_016356.5:c.209C>G (DCDC2) MANE Select NP_057440.2:p.Thr70Ser
NM_181337.4:c.-98G>C (KAAG1) NP_851854.1:n.-98G>C
NM_001195610.2:c.209C>G (DCDC2) NP_001182539.1:p.Thr70Ser
NR_174942.1:n.640G>C (KAAG1)