Canonical Allele Identifier: CA342395232
Gene: GJA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758590G>T , CM000663.2:g.147758590G>T GRCh38
NC_000001.10:g.147230698G>T , CM000663.1:g.147230698G>T GRCh37
NC_000001.9:g.145697322G>T NCBI36
NG_009369.2:g.19785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.649C>A MANE Select ENSP00000463851.1:p.Leu217Met
ENST00000430508.1:c.649C>A ENSP00000407645.1:p.Leu217Met
ENST00000579774.2:c.649C>A ENSP00000463851.1:p.Leu217Met
ENST00000621517.1:c.649C>A ENSP00000484552.1:p.Leu217Met
NM_005266.6:c.649C>A NP_005257.2:p.Leu217Met
NM_181703.3:c.649C>A NP_859054.1:p.Leu217Met
XM_005272951.3:c.649C>A XP_005273008.1:p.Leu217Met
XM_011509415.1:c.649C>A XP_011507717.1:p.Leu217Met
XR_922078.1:n.434-18971G>T
XR_922079.1:n.434-18971G>T
XM_005272951.4:c.649C>A XP_005273008.1:p.Leu217Met
XM_017001044.1:c.649C>A XP_016856533.1:p.Leu217Met
XR_922079.3:n.744-18971G>T
NM_181703.4:c.649C>A MANE Select NP_859054.1:p.Leu217Met
NM_005266.7:c.649C>A NP_005257.2:p.Leu217Met