Canonical Allele Identifier: CA413308569
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1929208
ClinVar RCV Id: RCV002618613
dbSNP Id: rs1930265020
gnomAD v3: X-64192221-T-A
gnomAD v4: X-64192221-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192221T>A , CM000685.2:g.64192221T>A GRCh38
NC_000023.10:g.63412101T>A , CM000685.1:g.63412101T>A GRCh37
NC_000023.9:g.63328826T>A NCBI36
NG_021345.1:g.18524A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1066A>T MANE Select ENSP00000364003.4:p.Thr356Ser
ENST00000330258.3:c.1066A>T ENSP00000329117.3:p.Thr356Ser
ENST00000374869.7:c.1066A>T ENSP00000364003.3:p.Thr356Ser
NM_152424.3:c.1066A>T NP_689637.3:p.Thr356Ser
XM_011530858.1:c.1066A>T XP_011529160.1:p.Thr356Ser
NM_152424.4:c.1066A>T MANE Select NP_689637.3:p.Thr356Ser