Canonical Allele Identifier: CA2169210596

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793448A= , CM000677.2:g.34793448A=	GRCh38
NC_000015.9:g.35085649A= , CM000677.1:g.35085649A=	GRCh37
NC_000015.8:g.32872941A=	NCBI36
NG_007553.1:g.7279T= , LRG_388:g.7279T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.357T= (ACTC1)
ENST00000290378.6:c.251T= (ACTC1) MANE Select	ENSP00000290378.4:p.Met84=
ENST00000647798.1:n.398T= (ACTC1)
ENST00000648556.1:n.408T= (ACTC1)
ENST00000650163.1:n.331T= (ACTC1)
ENST00000290378.4:c.251T= (ACTC1)	ENSP00000290378.4:p.Met84=
NM_005159.4:c.251T= , LRG_388t1:c.251T= (ACTC1)	NP_005150.1:p.Met84=
NR_120329.1:n.299+16017A= (GJD2-DT)
NM_005159.5:c.251T= (ACTC1) MANE Select	NP_005150.1:p.Met84=