Canonical Allele Identifier: CA16614745

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 410263
• ClinVar RCV Id: RCV000459436
• dbSNP Id: rs1060502822
• MyVariant Identifiers: chr15:g.35084618C>T (hg19) ; chr15:g.34792417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792417C>T , CM000677.2:g.34792417C>T	GRCh38
NC_000015.9:g.35084618C>T , CM000677.1:g.35084618C>T	GRCh37
NC_000015.8:g.32871910C>T	NCBI36
NG_007553.1:g.8310G>A , LRG_388:g.8310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.713G>A (ACTC1)
ENST00000290378.6:c.607G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Val203Ile
ENST00000647798.1:n.701G>A (ACTC1)
ENST00000648556.1:n.764G>A (ACTC1)
ENST00000650163.1:n.687G>A (ACTC1)
ENST00000290378.4:c.607G>A (ACTC1)	ENSP00000290378.4:p.Val203Ile
ENST00000557860.1:n.297G>A (ACTC1)
ENST00000560563.1:n.106G>A (ACTC1)
NM_005159.4:c.607G>A , LRG_388t1:c.607G>A (ACTC1)	NP_005150.1:p.Val203Ile
NR_120329.1:n.299+14986C>T (GJD2-DT)
NM_005159.5:c.607G>A (ACTC1) MANE Select	NP_005150.1:p.Val203Ile