Canonical Allele Identifier: CA4225802
Gene: AMPH HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.38461387G>T
GRCh37 chr7:g.38500987G>T
Revel Score:
ENST00000325590 0.357
ENST00000356264 (MANE Select) 0.357
ENST00000428293 0.357
ENST00000353242 0.357
ENST00000544070 0.357
ENST00000441628 0.157
gnomAD v2:
7:38500987 G / T
gnomAD v3:
7:38461387 G / T
gnomAD v4:
chr7-38461387-G-T
Joint Max Group AF 0.00000429 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar RCV:
RCV004151737
ClinVar Variation:
2299123
dbSNP:
755704877
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.38461387G>T , CM000669.2:g.38461387G>T GRCh38
NC_000007.13:g.38500987G>T , CM000669.1:g.38500987G>T GRCh37
NC_000007.12:g.38467512G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356264.7:c.913C>A MANE Select ENSP00000348602.2:p.Pro305Thr
ENST00000325590.9:c.913C>A ENSP00000317441.5:p.Pro305Thr
ENST00000356264.6:c.913C>A ENSP00000348602.2:p.Pro305Thr
ENST00000441628.5:c.164C>A
NM_001635.3:c.913C>A NP_001626.1:p.Pro305Thr
NM_139316.2:c.913C>A NP_647477.1:p.Pro305Thr
XM_006715689.2:c.913C>A XP_006715752.1:p.Pro305Thr
XM_006715690.2:c.913C>A XP_006715753.1:p.Pro305Thr
XM_006715691.2:c.913C>A XP_006715754.1:p.Pro305Thr
XM_011515271.1:c.913C>A XP_011513573.1:p.Pro305Thr
XM_006715689.4:c.913C>A XP_006715752.1:p.Pro305Thr
XM_006715690.4:c.913C>A XP_006715753.1:p.Pro305Thr
XM_006715691.4:c.913C>A XP_006715754.1:p.Pro305Thr
XM_011515271.3:c.913C>A XP_011513573.1:p.Pro305Thr
XM_017011995.2:c.913C>A XP_016867484.1:p.Pro305Thr
XM_017011996.2:c.913C>A XP_016867485.1:p.Pro305Thr
NM_001635.4:c.913C>A MANE Select NP_001626.1:p.Pro305Thr
NM_139316.3:c.913C>A NP_647477.1:p.Pro305Thr
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