Canonical Allele Identifier: CA413308092
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503184
ClinVar RCV Id: RCV003230018
dbSNP Id: rs1930257684

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192013T>C , CM000685.2:g.64192013T>C GRCh38
NC_000023.10:g.63411893T>C , CM000685.1:g.63411893T>C GRCh37
NC_000023.9:g.63328618T>C NCBI36
NG_021345.1:g.18732A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1274A>G MANE Select ENSP00000364003.4:p.Tyr425Cys
ENST00000330258.3:c.1274A>G ENSP00000329117.3:p.Tyr425Cys
ENST00000374869.7:c.1274A>G ENSP00000364003.3:p.Tyr425Cys
NM_152424.3:c.1274A>G NP_689637.3:p.Tyr425Cys
XM_011530858.1:c.1274A>G XP_011529160.1:p.Tyr425Cys
NM_152424.4:c.1274A>G MANE Select NP_689637.3:p.Tyr425Cys