Canonical Allele Identifier: CA413308112
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088725

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192023T>G , CM000685.2:g.64192023T>G GRCh38
NC_000023.10:g.63411903T>G , CM000685.1:g.63411903T>G GRCh37
NC_000023.9:g.63328628T>G NCBI36
NG_021345.1:g.18722A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1264A>C MANE Select ENSP00000364003.4:p.Asn422His
ENST00000330258.3:c.1264A>C ENSP00000329117.3:p.Asn422His
ENST00000374869.7:c.1264A>C ENSP00000364003.3:p.Asn422His
NM_152424.3:c.1264A>C NP_689637.3:p.Asn422His
XM_011530858.1:c.1264A>C XP_011529160.1:p.Asn422His
NM_152424.4:c.1264A>C MANE Select NP_689637.3:p.Asn422His