Canonical Allele Identifier: CA8607058

Gene: GJC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44804912G>A , CM000679.2:g.44804912G>A	GRCh38
NC_000017.10:g.42882280G>A , CM000679.1:g.42882280G>A	GRCh37
NC_000017.9:g.40237806G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592524.6:c.906C>T MANE Select	ENSP00000467201.1:p.Thr302=
ENST00000330514.4:c.906C>T	ENSP00000333193.3:p.Thr302=
ENST00000426548.5:c.906C>T	ENSP00000411528.1:p.Thr302=
ENST00000586347.1:c.55C>T
ENST00000587113.1:c.498C>T	ENSP00000468716.1:p.Thr166=
ENST00000590758.3:c.906C>T	ENSP00000466339.1:p.Thr302=
ENST00000592524.5:c.906C>T	ENSP00000467201.1:p.Thr302=
NM_001080383.1:c.906C>T	NP_001073852.1:p.Thr302=
NM_005497.3:c.906C>T	NP_005488.2:p.Thr302=
XM_005256920.1:c.906C>T	XP_005256977.1:p.Thr302=
XM_005256921.1:c.906C>T	XP_005256978.1:p.Thr302=
XR_934346.1:n.1002C>T
XM_024450525.1:c.906C>T	XP_024306293.1:p.Thr302=
XM_024450526.1:c.906C>T	XP_024306294.1:p.Thr302=
XM_024450527.1:c.906C>T	XP_024306295.1:p.Thr302=
XR_934346.3:n.1176C>T
NM_005497.4:c.906C>T MANE Select	NP_005488.2:p.Thr302=
NM_001080383.2:c.906C>T	NP_001073852.1:p.Thr302=