Canonical Allele Identifier: CA363278934

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24357537G>T , CM000668.2:g.24357537G>T GRCh38
NC_000006.11:g.24357765G>T , CM000668.1:g.24357765G>T GRCh37
NC_000006.10:g.24465744G>T NCBI36
NG_012829.1:g.5516C>A
NG_012829.2:g.30756C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274766.2:c.-103G>T (KAAG1) ENSP00000274766.1:n.-103G>T
ENST00000378454.8:c.214C>A (DCDC2) MANE Select ENSP00000367715.3:p.His72Asn
ENST00000274766.1:c.-103G>T (KAAG1) ENSP00000274766.1:n.-103G>T
ENST00000378454.7:c.214C>A (DCDC2) ENSP00000367715.3:p.His72Asn
ENST00000436313.1:c.117C>A (DCDC2)
NM_001195610.1:c.214C>A (DCDC2) NP_001182539.1:p.His72Asn
NM_016356.4:c.214C>A (DCDC2) NP_057440.2:p.His72Asn
NM_181337.3:c.-103G>T (KAAG1) NP_851854.1:n.-103G>T
NM_016356.5:c.214C>A (DCDC2) MANE Select NP_057440.2:p.His72Asn
NM_181337.4:c.-103G>T (KAAG1) NP_851854.1:n.-103G>T
NM_001195610.2:c.214C>A (DCDC2) NP_001182539.1:p.His72Asn
NR_174942.1:n.635G>T (KAAG1)