Canonical Allele Identifier: CA6560615
Gene: ASIC1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50073986G>A , CM000674.2:g.50073986G>A GRCh38
NC_000012.11:g.50467769G>A , CM000674.1:g.50467769G>A GRCh37
NC_000012.10:g.48754036G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000447966.7:c.559-3227G>A MANE Select ENSP00000400228.3:n.559-3227G>A
ENST00000228468.8:c.559-3227G>A ENSP00000228468.4:n.559-3227G>A
ENST00000447966.6:c.559-3227G>A ENSP00000400228.2:n.559-3227G>A
ENST00000453327.7:c.69-2982G>A
ENST00000550558.5:c.559-2982G>A ENSP00000448263.1:n.559-2982G>A
ENST00000551199.1:n.154+3093G>A
ENST00000552438.5:c.402G>A ENSP00000450247.1:p.Pro134=
NM_001095.3:c.559-3227G>A NP_001086.2:n.559-3227G>A
NM_001256830.1:c.402G>A NP_001243759.1:p.Pro134=
NM_020039.3:c.559-3227G>A NP_064423.2:n.559-3227G>A
NR_046389.1:n.855-2982G>A
XM_011538350.1:c.559-2982G>A XP_011536652.1:n.559-2982G>A
XM_011538351.1:c.559-2982G>A XP_011536653.1:n.559-2982G>A
XM_011538352.1:c.559-3227G>A XP_011536654.1:n.559-3227G>A
XM_011538351.2:c.559-2982G>A XP_011536653.1:n.559-2982G>A
NM_001095.4:c.559-3227G>A MANE Select NP_001086.2:n.559-3227G>A
NM_020039.4:c.559-3227G>A NP_064423.2:n.559-3227G>A
NR_046389.2:n.896-2982G>A