Canonical Allele Identifier: CA413308009
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088614
MyVariant Identifiers: chrX:g.63411854A>G (hg19) chrX:g.64191974A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64191974A>G , CM000685.2:g.64191974A>G GRCh38
NC_000023.10:g.63411854A>G , CM000685.1:g.63411854A>G GRCh37
NC_000023.9:g.63328579A>G NCBI36
NG_021345.1:g.18771T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1313T>C MANE Select ENSP00000364003.4:p.Leu438Pro
ENST00000330258.3:c.1313T>C ENSP00000329117.3:p.Leu438Pro
ENST00000374869.7:c.1313T>C ENSP00000364003.3:p.Leu438Pro
NM_152424.3:c.1313T>C NP_689637.3:p.Leu438Pro
XM_011530858.1:c.1313T>C XP_011529160.1:p.Leu438Pro
NM_152424.4:c.1313T>C MANE Select NP_689637.3:p.Leu438Pro
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