Canonical Allele Identifier: CA10432430
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs770333199
gnomAD v2: X-63412386-G-A
gnomAD v3: X-64192506-G-A
gnomAD v4: X-64192506-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192506G>A , CM000685.2:g.64192506G>A GRCh38
NC_000023.10:g.63412386G>A , CM000685.1:g.63412386G>A GRCh37
NC_000023.9:g.63329111G>A NCBI36
NG_021345.1:g.18239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.781C>T MANE Select ENSP00000364003.4:p.Pro261Ser
ENST00000330258.3:c.781C>T ENSP00000329117.3:p.Pro261Ser
ENST00000374869.7:c.781C>T ENSP00000364003.3:p.Pro261Ser
NM_152424.3:c.781C>T NP_689637.3:p.Pro261Ser
XM_011530858.1:c.781C>T XP_011529160.1:p.Pro261Ser
NM_152424.4:c.781C>T MANE Select NP_689637.3:p.Pro261Ser