Canonical Allele Identifier: CA413309064
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089507
gnomAD v4: X-64192392-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192392T>C , CM000685.2:g.64192392T>C GRCh38
NC_000023.10:g.63412272T>C , CM000685.1:g.63412272T>C GRCh37
NC_000023.9:g.63328997T>C NCBI36
NG_021345.1:g.18353A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.895A>G MANE Select ENSP00000364003.4:p.Asn299Asp
ENST00000330258.3:c.895A>G ENSP00000329117.3:p.Asn299Asp
ENST00000374869.7:c.895A>G ENSP00000364003.3:p.Asn299Asp
NM_152424.3:c.895A>G NP_689637.3:p.Asn299Asp
XM_011530858.1:c.895A>G XP_011529160.1:p.Asn299Asp
NM_152424.4:c.895A>G MANE Select NP_689637.3:p.Asn299Asp