Canonical Allele Identifier: CA413308437
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs768260912
gnomAD v4: X-64192158-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192158C>T , CM000685.2:g.64192158C>T GRCh38
NC_000023.10:g.63412038C>T , CM000685.1:g.63412038C>T GRCh37
NC_000023.9:g.63328763C>T NCBI36
NG_021345.1:g.18587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1129G>A MANE Select ENSP00000364003.4:p.Asp377Asn
ENST00000330258.3:c.1129G>A ENSP00000329117.3:p.Asp377Asn
ENST00000374869.7:c.1129G>A ENSP00000364003.3:p.Asp377Asn
NM_152424.3:c.1129G>A NP_689637.3:p.Asp377Asn
XM_011530858.1:c.1129G>A XP_011529160.1:p.Asp377Asn
NM_152424.4:c.1129G>A MANE Select NP_689637.3:p.Asp377Asn