Canonical Allele Identifier: CA391630720

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084451C>G (hg19) ; chr15:g.34792250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792250C>G , CM000677.2:g.34792250C>G	GRCh38
NC_000015.9:g.35084451C>G , CM000677.1:g.35084451C>G	GRCh37
NC_000015.8:g.32871743C>G	NCBI36
NG_007553.1:g.8477G>C , LRG_388:g.8477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.754G>C (ACTC1)
ENST00000290378.6:c.648G>C (ACTC1) MANE Select	ENSP00000290378.4:p.Glu216Asp
ENST00000647798.1:n.742G>C (ACTC1)
ENST00000648556.1:n.805G>C (ACTC1)
ENST00000650163.1:n.728G>C (ACTC1)
ENST00000290378.4:c.648G>C (ACTC1)	ENSP00000290378.4:p.Glu216Asp
ENST00000557860.1:n.338G>C (ACTC1)
ENST00000560563.1:n.147G>C (ACTC1)
NM_005159.4:c.648G>C , LRG_388t1:c.648G>C (ACTC1)	NP_005150.1:p.Glu216Asp
NR_120329.1:n.299+14819C>G (GJD2-DT)
NM_005159.5:c.648G>C (ACTC1) MANE Select	NP_005150.1:p.Glu216Asp