Canonical Allele Identifier: CA10432369
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs769518623
gnomAD v2: X-63411925-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192045T>A , CM000685.2:g.64192045T>A GRCh38
NC_000023.10:g.63411925T>A , CM000685.1:g.63411925T>A GRCh37
NC_000023.9:g.63328650T>A NCBI36
NG_021345.1:g.18700A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1242A>T MANE Select ENSP00000364003.4:p.Gln414His
ENST00000330258.3:c.1242A>T ENSP00000329117.3:p.Gln414His
ENST00000374869.7:c.1242A>T ENSP00000364003.3:p.Gln414His
NM_152424.3:c.1242A>T NP_689637.3:p.Gln414His
XM_011530858.1:c.1242A>T XP_011529160.1:p.Gln414His
NM_152424.4:c.1242A>T MANE Select NP_689637.3:p.Gln414His