Canonical Allele Identifier: CA2575670187

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792052G>T , CM000677.2:g.34792052G>T	GRCh38
NC_000015.9:g.35084253G>T , CM000677.1:g.35084253G>T	GRCh37
NC_000015.8:g.32871545G>T	NCBI36
NG_007553.1:g.8675C>A , LRG_388:g.8675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.952C>A (ACTC1)
ENST00000290378.6:c.808+38C>A (ACTC1) MANE Select	ENSP00000290378.4:n.808+38C>A
ENST00000647798.1:n.902+38C>A (ACTC1)
ENST00000650163.1:n.888+38C>A (ACTC1)
ENST00000290378.4:c.808+38C>A (ACTC1)	ENSP00000290378.4:n.808+38C>A
ENST00000557860.1:n.498+38C>A (ACTC1)
ENST00000560563.1:n.345C>A (ACTC1)
NM_005159.4:c.808+38C>A , LRG_388t1:c.808+38C>A (ACTC1)	NP_005150.1:n.808+38C>A
NR_120329.1:n.299+14621G>T (GJD2-DT)
NM_005159.5:c.808+38C>A (ACTC1) MANE Select	NP_005150.1:n.808+38C>A