Canonical Allele Identifier: CA6904029
Gene: GJA3 HGNC NCBI
COSMIC:
COSM4147624 (not active)
MyVariant.info:
GRCh38 chr13:g.20142394G>T
GRCh37 chr13:g.20716533G>T
GRCh37 chr13:g.20716533_20716538delinsTTTTGA
Revel Score:
ENST00000241125 (MANE Select) 0.144
gnomAD v2:
13:20716533 G / T
gnomAD v3:
13:20142394 G / T
gnomAD v4:
chr13-20142394-G-T
Joint Max Group AF 0.99818378 (NFE)
Genomes Max Group AF 0.99308572 (NFE)
Exomes Max Group AF 0.99815692 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20142394G>T , CM000675.2:g.20142394G>T GRCh38
NC_000013.10:g.20716533G>T , CM000675.1:g.20716533G>T GRCh37
NC_000013.9:g.19614533G>T NCBI36
NG_016399.1:g.23651C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.895C>A MANE Select ENSP00000241125.3:p.Leu299Met
ENST00000241125.3:c.895C>A ENSP00000241125.3:p.Leu299Met
NM_021954.3:c.895C>A NP_068773.2:p.Leu299Met
XM_005266353.1:c.895C>A XP_005266410.1:p.Leu299Met
XM_011535048.1:c.895C>A XP_011533350.1:p.Leu299Met
XM_011535048.2:c.895C>A XP_011533350.1:p.Leu299Met
NM_021954.4:c.895C>A MANE Select NP_068773.2:p.Leu299Met
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