Canonical Allele Identifier: CA391630946

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084655G>T (hg19) ; chr15:g.34792454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792454G>T , CM000677.2:g.34792454G>T	GRCh38
NC_000015.9:g.35084655G>T , CM000677.1:g.35084655G>T	GRCh37
NC_000015.8:g.32871947G>T	NCBI36
NG_007553.1:g.8273C>A , LRG_388:g.8273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.676C>A (ACTC1)
ENST00000290378.6:c.570C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Tyr190Ter
ENST00000647798.1:n.664C>A (ACTC1)
ENST00000648556.1:n.727C>A (ACTC1)
ENST00000650163.1:n.650C>A (ACTC1)
ENST00000290378.4:c.570C>A (ACTC1)	ENSP00000290378.4:p.Tyr190Ter
ENST00000557860.1:n.260C>A (ACTC1)
ENST00000560563.1:n.69C>A (ACTC1)
NM_005159.4:c.570C>A , LRG_388t1:c.570C>A (ACTC1)	NP_005150.1:p.Tyr190Ter
NR_120329.1:n.299+15023G>T (GJD2-DT)
NM_005159.5:c.570C>A (ACTC1) MANE Select	NP_005150.1:p.Tyr190Ter