Canonical Allele Identifier: CA10432376
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs773255833
ExAC: X:63411976 A / C
gnomAD v2: X-63411976-A-C
gnomAD v4: X-64192096-A-C
MyVariant Identifiers: chrX:g.63411976A>C (hg19) chrX:g.64192096A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192096A>C , CM000685.2:g.64192096A>C GRCh38
NC_000023.10:g.63411976A>C , CM000685.1:g.63411976A>C GRCh37
NC_000023.9:g.63328701A>C NCBI36
NG_021345.1:g.18649T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1191T>G MANE Select ENSP00000364003.4:p.Val397=
ENST00000330258.3:c.1191T>G ENSP00000329117.3:p.Val397=
ENST00000374869.7:c.1191T>G ENSP00000364003.3:p.Val397=
NM_152424.3:c.1191T>G NP_689637.3:p.Val397=
XM_011530858.1:c.1191T>G XP_011529160.1:p.Val397=
NM_152424.4:c.1191T>G MANE Select NP_689637.3:p.Val397=
Search 100 bp 5'
Search 100 bp 3'