Canonical Allele Identifier: CA10432390
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs778737659
ExAC: X:63412046 A / G
gnomAD v2: X-63412046-A-G
gnomAD v4: X-64192166-A-G
MyVariant Identifiers: chrX:g.63412046A>G (hg19) chrX:g.64192166A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192166A>G , CM000685.2:g.64192166A>G GRCh38
NC_000023.10:g.63412046A>G , CM000685.1:g.63412046A>G GRCh37
NC_000023.9:g.63328771A>G NCBI36
NG_021345.1:g.18579T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1121T>C MANE Select ENSP00000364003.4:p.Leu374Ser
ENST00000330258.3:c.1121T>C ENSP00000329117.3:p.Leu374Ser
ENST00000374869.7:c.1121T>C ENSP00000364003.3:p.Leu374Ser
NM_152424.3:c.1121T>C NP_689637.3:p.Leu374Ser
XM_011530858.1:c.1121T>C XP_011529160.1:p.Leu374Ser
NM_152424.4:c.1121T>C MANE Select NP_689637.3:p.Leu374Ser
Search 100 bp 5'
Search 100 bp 3'