Canonical Allele Identifier: CA363278922

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24357531T>A , CM000668.2:g.24357531T>A GRCh38
NC_000006.11:g.24357759T>A , CM000668.1:g.24357759T>A GRCh37
NC_000006.10:g.24465738T>A NCBI36
NG_012829.1:g.5522A>T
NG_012829.2:g.30762A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274766.2:c.-109T>A (KAAG1) ENSP00000274766.1:n.-109T>A
ENST00000378454.8:c.220A>T (DCDC2) MANE Select ENSP00000367715.3:p.Ile74Phe
ENST00000274766.1:c.-109T>A (KAAG1) ENSP00000274766.1:n.-109T>A
ENST00000378454.7:c.220A>T (DCDC2) ENSP00000367715.3:p.Ile74Phe
ENST00000436313.1:c.123A>T (DCDC2)
NM_001195610.1:c.220A>T (DCDC2) NP_001182539.1:p.Ile74Phe
NM_016356.4:c.220A>T (DCDC2) NP_057440.2:p.Ile74Phe
NM_181337.3:c.-109T>A (KAAG1) NP_851854.1:n.-109T>A
NM_016356.5:c.220A>T (DCDC2) MANE Select NP_057440.2:p.Ile74Phe
NM_181337.4:c.-109T>A (KAAG1) NP_851854.1:n.-109T>A
NM_001195610.2:c.220A>T (DCDC2) NP_001182539.1:p.Ile74Phe
NR_174942.1:n.629T>A (KAAG1)