Canonical Allele Identifier: CA517040928
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs748967963
gnomAD v2: X-63411940-C-A
gnomAD v4: X-64192060-C-A
MyVariant Identifiers: chrX:g.63411940C>A (hg19) chrX:g.64192060C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192060C>A , CM000685.2:g.64192060C>A GRCh38
NC_000023.10:g.63411940C>A , CM000685.1:g.63411940C>A GRCh37
NC_000023.9:g.63328665C>A NCBI36
NG_021345.1:g.18685G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1227G>T MANE Select ENSP00000364003.4:p.Leu409=
ENST00000330258.3:c.1227G>T ENSP00000329117.3:p.Leu409=
ENST00000374869.7:c.1227G>T ENSP00000364003.3:p.Leu409=
NM_152424.3:c.1227G>T NP_689637.3:p.Leu409=
XM_011530858.1:c.1227G>T XP_011529160.1:p.Leu409=
NM_152424.4:c.1227G>T MANE Select NP_689637.3:p.Leu409=
Search 100 bp 5'
Search 100 bp 3'