Canonical Allele Identifier: CA329957560
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs139477886
gnomAD v4: X-64192523-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192523C>A , CM000685.2:g.64192523C>A GRCh38
NC_000023.10:g.63412403C>A , CM000685.1:g.63412403C>A GRCh37
NC_000023.9:g.63329128C>A NCBI36
NG_021345.1:g.18222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.764G>T MANE Select ENSP00000364003.4:p.Cys255Phe
ENST00000330258.3:c.764G>T ENSP00000329117.3:p.Cys255Phe
ENST00000374869.7:c.764G>T ENSP00000364003.3:p.Cys255Phe
NM_152424.3:c.764G>T NP_689637.3:p.Cys255Phe
XM_011530858.1:c.764G>T XP_011529160.1:p.Cys255Phe
NM_152424.4:c.764G>T MANE Select NP_689637.3:p.Cys255Phe