Canonical Allele Identifier: CA2169207392

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891716270

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792053G>A , CM000677.2:g.34792053G>A	GRCh38
NC_000015.9:g.35084254G>A , CM000677.1:g.35084254G>A	GRCh37
NC_000015.8:g.32871546G>A	NCBI36
NG_007553.1:g.8674C>T , LRG_388:g.8674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.951C>T (ACTC1)
ENST00000290378.6:c.808+37C>T (ACTC1) MANE Select	ENSP00000290378.4:n.808+37C>T
ENST00000647798.1:n.902+37C>T (ACTC1)
ENST00000650163.1:n.888+37C>T (ACTC1)
ENST00000290378.4:c.808+37C>T (ACTC1)	ENSP00000290378.4:n.808+37C>T
ENST00000557860.1:n.498+37C>T (ACTC1)
ENST00000560563.1:n.344C>T (ACTC1)
NM_005159.4:c.808+37C>T , LRG_388t1:c.808+37C>T (ACTC1)	NP_005150.1:n.808+37C>T
NR_120329.1:n.299+14622G>A (GJD2-DT)
NM_005159.5:c.808+37C>T (ACTC1) MANE Select	NP_005150.1:n.808+37C>T