Canonical Allele Identifier: CA4225778

Gene: AMPH

Linked Data

• ClinVar Variation Id: 786899
• ClinVar RCV Id: RCV000969034
• dbSNP Id: rs201791183
• ExAC: 7:38500873 A / G
• gnomAD v2: 7-38500873-A-G
• gnomAD v3: 7-38461273-A-G
• gnomAD v4: 7-38461273-A-G
• MyVariant Identifiers: chr7:g.38500873A>G (hg19) ; chr7:g.38461273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.38461273A>G , CM000669.2:g.38461273A>G	GRCh38
NC_000007.13:g.38500873A>G , CM000669.1:g.38500873A>G	GRCh37
NC_000007.12:g.38467398A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356264.7:c.1017+10T>C MANE Select	ENSP00000348602.2:n.1017+10T>C
ENST00000325590.9:c.1017+10T>C	ENSP00000317441.5:n.1017+10T>C
ENST00000356264.6:c.1017+10T>C	ENSP00000348602.2:n.1017+10T>C
ENST00000441628.5:c.268+10T>C
NM_001635.3:c.1017+10T>C	NP_001626.1:n.1017+10T>C
NM_139316.2:c.1017+10T>C	NP_647477.1:n.1017+10T>C
XM_006715689.2:c.1017+10T>C	XP_006715752.1:n.1017+10T>C
XM_006715690.2:c.1017+10T>C	XP_006715753.1:n.1017+10T>C
XM_006715691.2:c.1017+10T>C	XP_006715754.1:n.1017+10T>C
XM_011515271.1:c.1017+10T>C	XP_011513573.1:n.1017+10T>C
XM_006715689.4:c.1017+10T>C	XP_006715752.1:n.1017+10T>C
XM_006715690.4:c.1017+10T>C	XP_006715753.1:n.1017+10T>C
XM_006715691.4:c.1017+10T>C	XP_006715754.1:n.1017+10T>C
XM_011515271.3:c.1017+10T>C	XP_011513573.1:n.1017+10T>C
XM_017011995.2:c.1017+10T>C	XP_016867484.1:n.1017+10T>C
XM_017011996.2:c.1017+10T>C	XP_016867485.1:n.1017+10T>C
NM_001635.4:c.1017+10T>C MANE Select	NP_001626.1:n.1017+10T>C
NM_139316.3:c.1017+10T>C	NP_647477.1:n.1017+10T>C