Canonical Allele Identifier: CA391628810

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1595759948
• MyVariant Identifiers: chr15:g.35082667G>T (hg19) ; chr15:g.34790466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790466G>T , CM000677.2:g.34790466G>T	GRCh38
NC_000015.9:g.35082667G>T , CM000677.1:g.35082667G>T	GRCh37
NC_000015.8:g.32869959G>T	NCBI36
NG_007553.1:g.10261C>A , LRG_388:g.10261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1980C>A (ACTC1)
ENST00000290378.6:c.1080C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Ser360Arg
ENST00000647798.1:n.1174C>A (ACTC1)
ENST00000650163.1:n.1160C>A (ACTC1)
ENST00000290378.4:c.1080C>A (ACTC1)	ENSP00000290378.4:p.Ser360Arg
NM_005159.4:c.1080C>A , LRG_388t1:c.1080C>A (ACTC1)	NP_005150.1:p.Ser360Arg
NR_120329.1:n.299+13035G>T (GJD2-DT)
NM_005159.5:c.1080C>A (ACTC1) MANE Select	NP_005150.1:p.Ser360Arg