Canonical Allele Identifier: CA413309049
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs745954685
gnomAD v3: X-64192389-G-C
gnomAD v4: X-64192389-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192389G>C , CM000685.2:g.64192389G>C GRCh38
NC_000023.10:g.63412269G>C , CM000685.1:g.63412269G>C GRCh37
NC_000023.9:g.63328994G>C NCBI36
NG_021345.1:g.18356C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.898C>G MANE Select ENSP00000364003.4:p.Pro300Ala
ENST00000330258.3:c.898C>G ENSP00000329117.3:p.Pro300Ala
ENST00000374869.7:c.898C>G ENSP00000364003.3:p.Pro300Ala
NM_152424.3:c.898C>G NP_689637.3:p.Pro300Ala
XM_011530858.1:c.898C>G XP_011529160.1:p.Pro300Ala
NM_152424.4:c.898C>G MANE Select NP_689637.3:p.Pro300Ala