Canonical Allele Identifier: CA517040934
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2714006
ClinVar RCV Id: RCV003550696
dbSNP Id: rs2147088818
COSMIC: COSM95874
MyVariant Identifiers: chrX:g.63411942G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192062G>A , CM000685.2:g.64192062G>A GRCh38
NC_000023.10:g.63411942G>A , CM000685.1:g.63411942G>A GRCh37
NC_000023.9:g.63328667G>A NCBI36
NG_021345.1:g.18683C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1225C>T MANE Select ENSP00000364003.4:p.Leu409=
ENST00000330258.3:c.1225C>T ENSP00000329117.3:p.Leu409=
ENST00000374869.7:c.1225C>T ENSP00000364003.3:p.Leu409=
NM_152424.3:c.1225C>T NP_689637.3:p.Leu409=
XM_011530858.1:c.1225C>T XP_011529160.1:p.Leu409=
NM_152424.4:c.1225C>T MANE Select NP_689637.3:p.Leu409=
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Search 100 bp 3'