Canonical Allele Identifier: CA413309797
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089889
gnomAD v4: X-64192554-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192554G>C , CM000685.2:g.64192554G>C GRCh38
NC_000023.10:g.63412434G>C , CM000685.1:g.63412434G>C GRCh37
NC_000023.9:g.63329159G>C NCBI36
NG_021345.1:g.18191C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.733C>G MANE Select ENSP00000364003.4:p.Pro245Ala
ENST00000330258.3:c.733C>G ENSP00000329117.3:p.Pro245Ala
ENST00000374869.7:c.733C>G ENSP00000364003.3:p.Pro245Ala
NM_152424.3:c.733C>G NP_689637.3:p.Pro245Ala
XM_011530858.1:c.733C>G XP_011529160.1:p.Pro245Ala
NM_152424.4:c.733C>G MANE Select NP_689637.3:p.Pro245Ala