Canonical Allele Identifier: CA10432354
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs763896843
ExAC: X:63411855 G / A
gnomAD v2: X-63411855-G-A
gnomAD v4: X-64191975-G-A
MyVariant Identifiers: chrX:g.63411855G>A (hg19) chrX:g.64191975G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64191975G>A , CM000685.2:g.64191975G>A GRCh38
NC_000023.10:g.63411855G>A , CM000685.1:g.63411855G>A GRCh37
NC_000023.9:g.63328580G>A NCBI36
NG_021345.1:g.18770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1312C>T MANE Select ENSP00000364003.4:p.Leu438Phe
ENST00000330258.3:c.1312C>T ENSP00000329117.3:p.Leu438Phe
ENST00000374869.7:c.1312C>T ENSP00000364003.3:p.Leu438Phe
NM_152424.3:c.1312C>T NP_689637.3:p.Leu438Phe
XM_011530858.1:c.1312C>T XP_011529160.1:p.Leu438Phe
NM_152424.4:c.1312C>T MANE Select NP_689637.3:p.Leu438Phe
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