Canonical Allele Identifier: CA489419033

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1595760290
• COSMIC: COSM236931
• MyVariant Identifiers: chr15:g.35083468T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791267T>A , CM000677.2:g.34791267T>A	GRCh38
NC_000015.9:g.35083468T>A , CM000677.1:g.35083468T>A	GRCh37
NC_000015.8:g.32870760T>A	NCBI36
NG_007553.1:g.9460A>T , LRG_388:g.9460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1737A>T (ACTC1)
ENST00000290378.6:c.837A>T (ACTC1) MANE Select	ENSP00000290378.4:p.Thr279=
ENST00000647798.1:n.931A>T (ACTC1)
ENST00000650163.1:n.917A>T (ACTC1)
ENST00000290378.4:c.837A>T (ACTC1)	ENSP00000290378.4:p.Thr279=
ENST00000557860.1:n.527A>T (ACTC1)
NM_005159.4:c.837A>T , LRG_388t1:c.837A>T (ACTC1)	NP_005150.1:p.Thr279=
NR_120329.1:n.299+13836T>A (GJD2-DT)
NM_005159.5:c.837A>T (ACTC1) MANE Select	NP_005150.1:p.Thr279=