Canonical Allele Identifier: CA517040860
Gene: AMER1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.63411883G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192003G>C , CM000685.2:g.64192003G>C GRCh38
NC_000023.10:g.63411883G>C , CM000685.1:g.63411883G>C GRCh37
NC_000023.9:g.63328608G>C NCBI36
NG_021345.1:g.18742C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1284C>G MANE Select ENSP00000364003.4:p.Thr428=
ENST00000330258.3:c.1284C>G ENSP00000329117.3:p.Thr428=
ENST00000374869.7:c.1284C>G ENSP00000364003.3:p.Thr428=
NM_152424.3:c.1284C>G NP_689637.3:p.Thr428=
XM_011530858.1:c.1284C>G XP_011529160.1:p.Thr428=
NM_152424.4:c.1284C>G MANE Select NP_689637.3:p.Thr428=
Search 100 bp 5'
Search 100 bp 3'