Canonical Allele Identifier: CA342395290
Gene: GJA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758604A>T , CM000663.2:g.147758604A>T GRCh38
NC_000001.10:g.147230712A>T , CM000663.1:g.147230712A>T GRCh37
NC_000001.9:g.145697336A>T NCBI36
NG_009369.2:g.19771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.635T>A MANE Select ENSP00000463851.1:p.Leu212Gln
ENST00000430508.1:c.635T>A ENSP00000407645.1:p.Leu212Gln
ENST00000579774.2:c.635T>A ENSP00000463851.1:p.Leu212Gln
ENST00000621517.1:c.635T>A ENSP00000484552.1:p.Leu212Gln
NM_005266.6:c.635T>A NP_005257.2:p.Leu212Gln
NM_181703.3:c.635T>A NP_859054.1:p.Leu212Gln
XM_005272951.3:c.635T>A XP_005273008.1:p.Leu212Gln
XM_011509415.1:c.635T>A XP_011507717.1:p.Leu212Gln
XR_922078.1:n.434-18957A>T
XR_922079.1:n.434-18957A>T
XM_005272951.4:c.635T>A XP_005273008.1:p.Leu212Gln
XM_017001044.1:c.635T>A XP_016856533.1:p.Leu212Gln
XR_922079.3:n.744-18957A>T
NM_181703.4:c.635T>A MANE Select NP_859054.1:p.Leu212Gln
NM_005266.7:c.635T>A NP_005257.2:p.Leu212Gln