Canonical Allele Identifier: CA391632240
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085755T>C (hg19) chr15:g.34793554T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793554T>C , CM000677.2:g.34793554T>C GRCh38
NC_000015.9:g.35085755T>C , CM000677.1:g.35085755T>C GRCh37
NC_000015.8:g.32873047T>C NCBI36
NG_007553.1:g.7173A>G , LRG_388:g.7173A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.251A>G (ACTC1)
ENST00000290378.6:c.145A>G (ACTC1) MANE Select ENSP00000290378.4:p.Met49Val
ENST00000647798.1:n.292A>G (ACTC1)
ENST00000648556.1:n.302A>G (ACTC1)
ENST00000650163.1:n.225A>G (ACTC1)
ENST00000290378.4:c.145A>G (ACTC1) ENSP00000290378.4:p.Met49Val
NM_005159.4:c.145A>G , LRG_388t1:c.145A>G (ACTC1) NP_005150.1:p.Met49Val
NR_120329.1:n.299+16123T>C (GJD2-DT)
NM_005159.5:c.145A>G (ACTC1) MANE Select NP_005150.1:p.Met49Val
Search 100 bp 5'
Search 100 bp 3'