Canonical Allele Identifier: CA413308127
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3115066
ClinVar RCV Id: RCV004406384
dbSNP Id: rs1341891064
gnomAD v2: X-63411908-T-C
gnomAD v3: X-64192028-T-C
gnomAD v4: X-64192028-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192028T>C , CM000685.2:g.64192028T>C GRCh38
NC_000023.10:g.63411908T>C , CM000685.1:g.63411908T>C GRCh37
NC_000023.9:g.63328633T>C NCBI36
NG_021345.1:g.18717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1259A>G MANE Select ENSP00000364003.4:p.Asn420Ser
ENST00000330258.3:c.1259A>G ENSP00000329117.3:p.Asn420Ser
ENST00000374869.7:c.1259A>G ENSP00000364003.3:p.Asn420Ser
NM_152424.3:c.1259A>G NP_689637.3:p.Asn420Ser
XM_011530858.1:c.1259A>G XP_011529160.1:p.Asn420Ser
NM_152424.4:c.1259A>G MANE Select NP_689637.3:p.Asn420Ser