Canonical Allele Identifier: CA2169206072

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891700747

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791312C>A , CM000677.2:g.34791312C>A	GRCh38
NC_000015.9:g.35083513C>A , CM000677.1:g.35083513C>A	GRCh37
NC_000015.8:g.32870805C>A	NCBI36
NG_007553.1:g.9415G>T , LRG_388:g.9415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1692G>T (ACTC1)
ENST00000290378.6:c.809-17G>T (ACTC1) MANE Select	ENSP00000290378.4:n.809-17G>T
ENST00000647798.1:n.903-17G>T (ACTC1)
ENST00000650163.1:n.889-17G>T (ACTC1)
ENST00000290378.4:c.809-17G>T (ACTC1)	ENSP00000290378.4:n.809-17G>T
ENST00000557860.1:n.499-17G>T (ACTC1)
NM_005159.4:c.809-17G>T , LRG_388t1:c.809-17G>T (ACTC1)	NP_005150.1:n.809-17G>T
NR_120329.1:n.299+13881C>A (GJD2-DT)
NM_005159.5:c.809-17G>T (ACTC1) MANE Select	NP_005150.1:n.809-17G>T