Canonical Allele Identifier: CA778115

Gene: GJA9 RRAGC-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38874709A>G , CM000663.2:g.38874709A>G	GRCh38
NC_000001.10:g.39340381A>G , CM000663.1:g.39340381A>G	GRCh37
NC_000001.9:g.39112968A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030772.5:c.1390T>C (GJA9) MANE Select	NP_110399.2:p.Ser464Pro
ENST00000357771.5:c.1390T>C (GJA9) MANE Select	ENSP00000350415.3:p.Ser464Pro
NM_030772.4:c.1390T>C (GJA9)	NP_110399.2:p.Ser464Pro
NR_037633.1:n.1680T>C
NR_037634.1:n.1611+69T>C
NR_037635.1:n.196-1619T>C
NR_037636.1:n.195+6723T>C
NR_037637.1:n.195+6723T>C
NR_135048.1:n.179+1130A>G (RRAGC-DT)
ENST00000357771.4:c.1390T>C (GJA9)	ENSP00000350415.3:p.Ser464Pro
ENST00000360786.3:c.1390T>C (GJA9)	ENSP00000354020.3:p.Ser464Pro
ENST00000454994.3:c.1321+69T>C	ENSP00000406846.2:n.1321+69T>C
ENST00000489575.2:n.171+6723T>C
ENST00000489803.5:n.1651T>C
ENST00000621281.1:c.37-1619T>C	ENSP00000479064.1:n.37-1619T>C
XR_947216.1:n.323-1232A>G (RRAGC-DT)
XR_947217.1:n.179+1130A>G (RRAGC-DT)