Canonical Allele Identifier: CA413309639
Gene: AMER1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192519T>G , CM000685.2:g.64192519T>G GRCh38
NC_000023.10:g.63412399T>G , CM000685.1:g.63412399T>G GRCh37
NC_000023.9:g.63329124T>G NCBI36
NG_021345.1:g.18226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.768A>C MANE Select ENSP00000364003.4:p.Lys256Asn
ENST00000330258.3:c.768A>C ENSP00000329117.3:p.Lys256Asn
ENST00000374869.7:c.768A>C ENSP00000364003.3:p.Lys256Asn
NM_152424.3:c.768A>C NP_689637.3:p.Lys256Asn
XM_011530858.1:c.768A>C XP_011529160.1:p.Lys256Asn
NM_152424.4:c.768A>C MANE Select NP_689637.3:p.Lys256Asn