Canonical Allele Identifier: CA329957366
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs776745995
gnomAD v2: X-63412266-G-A
gnomAD v4: X-64192386-G-A
MyVariant Identifiers: chrX:g.63412266G>A (hg19) chrX:g.64192386G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192386G>A , CM000685.2:g.64192386G>A GRCh38
NC_000023.10:g.63412266G>A , CM000685.1:g.63412266G>A GRCh37
NC_000023.9:g.63328991G>A NCBI36
NG_021345.1:g.18359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.901C>T MANE Select ENSP00000364003.4:p.Pro301Ser
ENST00000330258.3:c.901C>T ENSP00000329117.3:p.Pro301Ser
ENST00000374869.7:c.901C>T ENSP00000364003.3:p.Pro301Ser
NM_152424.3:c.901C>T NP_689637.3:p.Pro301Ser
XM_011530858.1:c.901C>T XP_011529160.1:p.Pro301Ser
NM_152424.4:c.901C>T MANE Select NP_689637.3:p.Pro301Ser
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