Canonical Allele Identifier: CA617555412

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1490217002
• gnomAD v2: 15-35084585-G-A
• MyVariant Identifiers: chr15:g.35084585G>A (hg19) ; chr15:g.34792384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792384G>A , CM000677.2:g.34792384G>A	GRCh38
NC_000015.9:g.35084585G>A , CM000677.1:g.35084585G>A	GRCh37
NC_000015.8:g.32871877G>A	NCBI36
NG_007553.1:g.8343C>T , LRG_388:g.8343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+24C>T (ACTC1)
ENST00000290378.6:c.616+24C>T (ACTC1) MANE Select	ENSP00000290378.4:n.616+24C>T
ENST00000647798.1:n.710+24C>T (ACTC1)
ENST00000648556.1:n.773+24C>T (ACTC1)
ENST00000650163.1:n.696+24C>T (ACTC1)
ENST00000290378.4:c.616+24C>T (ACTC1)	ENSP00000290378.4:n.616+24C>T
ENST00000557860.1:n.306+24C>T (ACTC1)
ENST00000560563.1:n.115+24C>T (ACTC1)
NM_005159.4:c.616+24C>T , LRG_388t1:c.616+24C>T (ACTC1)	NP_005150.1:n.616+24C>T
NR_120329.1:n.299+14953G>A (GJD2-DT)
NM_005159.5:c.616+24C>T (ACTC1) MANE Select	NP_005150.1:n.616+24C>T