Canonical Allele Identifier: CA4225426

Gene: AMPH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.38392001G>A , CM000669.2:g.38392001G>A	GRCh38
NC_000007.13:g.38431602G>A , CM000669.1:g.38431602G>A	GRCh37
NC_000007.12:g.38398127G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001635.4:c.1625C>T MANE Select	NP_001626.1:p.Ser542Leu
ENST00000356264.7:c.1625C>T MANE Select	ENSP00000348602.2:p.Ser542Leu
NM_001635.3:c.1625C>T	NP_001626.1:p.Ser542Leu
NM_139316.2:c.1499C>T	NP_647477.1:p.Ser500Leu
NM_139316.3:c.1499C>T	NP_647477.1:p.Ser500Leu
ENST00000325590.9:c.1499C>T	ENSP00000317441.5:p.Ser500Leu
ENST00000356264.6:c.1625C>T	ENSP00000348602.2:p.Ser542Leu
ENST00000441628.5:c.1272C>T
ENST00000450124.1:c.652C>T
ENST00000460887.1:n.119C>T
ENST00000467580.5:n.853C>T
ENST00000471913.5:n.1765C>T
ENST00000475581.5:n.434C>T
XM_006715689.2:c.3215C>T	XP_006715752.1:p.Ser1072Leu
XM_006715689.4:c.3215C>T	XP_006715752.1:p.Ser1072Leu
XM_006715690.2:c.1997C>T	XP_006715753.1:p.Ser666Leu
XM_006715690.4:c.1997C>T	XP_006715753.1:p.Ser666Leu
XM_011515271.1:c.2123C>T	XP_011513573.1:p.Ser708Leu
XM_011515271.3:c.2123C>T	XP_011513573.1:p.Ser708Leu
XM_017011995.2:c.3341C>T	XP_016867484.1:p.Ser1114Leu
XM_017011996.2:c.2303C>T	XP_016867485.1:p.Ser768Leu