Canonical Allele Identifier: CA778105

Gene: GJA9 RRAGC-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38874597G>A , CM000663.2:g.38874597G>A	GRCh38
NC_000001.10:g.39340269G>A , CM000663.1:g.39340269G>A	GRCh37
NC_000001.9:g.39112856G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030772.5:c.1502C>T (GJA9) MANE Select	NP_110399.2:p.Thr501Met
ENST00000357771.5:c.1502C>T (GJA9) MANE Select	ENSP00000350415.3:p.Thr501Met
NM_030772.4:c.1502C>T (GJA9)	NP_110399.2:p.Thr501Met
NR_037633.1:n.1792C>T
NR_037634.1:n.1611+181C>T
NR_037635.1:n.196-1507C>T
NR_037636.1:n.195+6835C>T
NR_037637.1:n.195+6835C>T
NR_135048.1:n.179+1018G>A (RRAGC-DT)
ENST00000357771.4:c.1502C>T (GJA9)	ENSP00000350415.3:p.Thr501Met
ENST00000360786.3:c.1502C>T (GJA9)	ENSP00000354020.3:p.Thr501Met
ENST00000454994.3:c.1321+181C>T	ENSP00000406846.2:n.1321+181C>T
ENST00000489575.2:n.171+6835C>T
ENST00000489803.5:n.1763C>T
ENST00000621281.1:c.37-1507C>T	ENSP00000479064.1:n.37-1507C>T
XR_947216.1:n.323-1344G>A (RRAGC-DT)
XR_947217.1:n.179+1018G>A (RRAGC-DT)