Canonical Allele Identifier: CA489655467

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084687G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792486G>A , CM000677.2:g.34792486G>A	GRCh38
NC_000015.9:g.35084687G>A , CM000677.1:g.35084687G>A	GRCh37
NC_000015.8:g.32871979G>A	NCBI36
NG_007553.1:g.8241C>T , LRG_388:g.8241C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.644C>T (ACTC1)
ENST00000290378.6:c.538C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Leu180=
ENST00000647798.1:n.632C>T (ACTC1)
ENST00000648556.1:n.695C>T (ACTC1)
ENST00000650163.1:n.618C>T (ACTC1)
ENST00000290378.4:c.538C>T (ACTC1)	ENSP00000290378.4:p.Leu180=
ENST00000557860.1:n.228C>T (ACTC1)
ENST00000560563.1:n.37C>T (ACTC1)
NM_005159.4:c.538C>T , LRG_388t1:c.538C>T (ACTC1)	NP_005150.1:p.Leu180=
NR_120329.1:n.299+15055G>A (GJD2-DT)
NM_005159.5:c.538C>T (ACTC1) MANE Select	NP_005150.1:p.Leu180=