Canonical Allele Identifier: CA413308330
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088907

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192115T>A , CM000685.2:g.64192115T>A GRCh38
NC_000023.10:g.63411995T>A , CM000685.1:g.63411995T>A GRCh37
NC_000023.9:g.63328720T>A NCBI36
NG_021345.1:g.18630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1172A>T MANE Select ENSP00000364003.4:p.Glu391Val
ENST00000330258.3:c.1172A>T ENSP00000329117.3:p.Glu391Val
ENST00000374869.7:c.1172A>T ENSP00000364003.3:p.Glu391Val
NM_152424.3:c.1172A>T NP_689637.3:p.Glu391Val
XM_011530858.1:c.1172A>T XP_011529160.1:p.Glu391Val
NM_152424.4:c.1172A>T MANE Select NP_689637.3:p.Glu391Val