Canonical Allele Identifier: CA2128927
Community Standard Title: NM_018674.6(ASIC4):c.1104G>A (p.Pro368=)
Gene: ASIC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219535199G>A , CM000664.2:g.219535199G>A GRCh38
NC_000002.11:g.220399921G>A , CM000664.1:g.220399921G>A GRCh37
NC_000002.10:g.220108165G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018674.6:c.1104G>A MANE Select NP_061144.4:p.Pro368=
ENST00000358078.5:c.1104G>A MANE Select ENSP00000350786.5:p.Pro368=
NM_018674.5:c.1485G>A NP_061144.3:p.Pro495=
NM_182847.2:c.1428G>A NP_878267.2:p.Pro476=
NM_182847.3:c.1047G>A NP_878267.3:p.Pro349=
ENST00000347842.7:c.1428G>A ENSP00000326627.3:p.Pro476=
ENST00000347842.8:c.1047G>A ENSP00000326627.4:p.Pro349=
ENST00000358078.4:c.1485G>A ENSP00000350786.4:p.Pro495=
ENST00000474489.5:n.655G>A
ENST00000693692.1:c.1485G>A ENSP00000508764.1:p.Pro495=
XM_005246671.2:c.1485G>A XP_005246728.2:p.Pro495=
XM_011511438.1:c.1785G>A XP_011509740.1:p.Pro595=
XM_011511440.1:c.1631G>A XP_011509742.1:p.Arg544His
XM_011511441.1:c.747G>A XP_011509743.1:p.Pro249=
XM_017004439.1:c.447G>A XP_016859928.1:p.Pro149=