Canonical Allele Identifier: CA367297525
Gene: AMPH HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.38631330T>C
GRCh37 chr7:g.38670930T>C
Revel Score:
ENST00000325590 0.064
ENST00000356264 (MANE Select) 0.064
ENST00000428293 0.064
ENST00000544070 0.064
gnomAD v4:
chr7-38631330-T-C
Joint Max Group AF 0.00000705 (NFE)
Exomes Max Group AF 0.00000749 (NFE)
ClinVar RCV:
RCV004140135
ClinVar Variation:
2293019
dbSNP:
1453668474
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.38631330T>C , CM000669.2:g.38631330T>C GRCh38
NC_000007.13:g.38670930T>C , CM000669.1:g.38670930T>C GRCh37
NC_000007.12:g.38637455T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356264.7:c.22A>G MANE Select ENSP00000348602.2:p.Ile8Val
ENST00000325590.9:c.22A>G ENSP00000317441.5:p.Ile8Val
ENST00000356264.6:c.22A>G ENSP00000348602.2:p.Ile8Val
NM_001635.3:c.22A>G NP_001626.1:p.Ile8Val
NM_139316.2:c.22A>G NP_647477.1:p.Ile8Val
XM_006715689.2:c.22A>G XP_006715752.1:p.Ile8Val
XM_006715690.2:c.22A>G XP_006715753.1:p.Ile8Val
XM_006715691.2:c.22A>G XP_006715754.1:p.Ile8Val
XM_011515271.1:c.22A>G XP_011513573.1:p.Ile8Val
XM_006715689.4:c.22A>G XP_006715752.1:p.Ile8Val
XM_006715690.4:c.22A>G XP_006715753.1:p.Ile8Val
XM_006715691.4:c.22A>G XP_006715754.1:p.Ile8Val
XM_011515271.3:c.22A>G XP_011513573.1:p.Ile8Val
XM_017011995.2:c.22A>G XP_016867484.1:p.Ile8Val
XM_017011996.2:c.22A>G XP_016867485.1:p.Ile8Val
NM_001635.4:c.22A>G MANE Select NP_001626.1:p.Ile8Val
NM_139316.3:c.22A>G NP_647477.1:p.Ile8Val
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