Canonical Allele Identifier: CA10432409
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs777633799
gnomAD v2: X-63412258-G-A
gnomAD v3: X-64192378-G-A
gnomAD v4: X-64192378-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192378G>A , CM000685.2:g.64192378G>A GRCh38
NC_000023.10:g.63412258G>A , CM000685.1:g.63412258G>A GRCh37
NC_000023.9:g.63328983G>A NCBI36
NG_021345.1:g.18367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.909C>T MANE Select ENSP00000364003.4:p.Gly303=
ENST00000330258.3:c.909C>T ENSP00000329117.3:p.Gly303=
ENST00000374869.7:c.909C>T ENSP00000364003.3:p.Gly303=
NM_152424.3:c.909C>T NP_689637.3:p.Gly303=
XM_011530858.1:c.909C>T XP_011529160.1:p.Gly303=
NM_152424.4:c.909C>T MANE Select NP_689637.3:p.Gly303=