Canonical Allele Identifier: CA121078

Gene: ALAS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021195G>T , CM000685.2:g.55021195G>T	GRCh38
NC_000023.10:g.55047628G>T , CM000685.1:g.55047628G>T	GRCh37
NC_000023.9:g.55064353G>T	NCBI36
NG_008983.1:g.14870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.279C>A	ENSP00000407204.2:p.Phe93Leu
ENST00000477869.6:c.168C>A	ENSP00000496725.1:p.Phe56Leu
ENST00000493869.2:c.305-691C>A	ENSP00000495713.1:n.305-691C>A
ENST00000650242.1:c.495C>A MANE Select	ENSP00000497236.1:p.Phe165Leu
ENST00000330807.9:c.495C>A	ENSP00000332369.5:p.Phe165Leu
ENST00000335854.8:c.384C>A	ENSP00000337131.4:p.Phe128Leu
ENST00000396198.7:c.456C>A	ENSP00000379501.3:p.Phe152Leu
ENST00000455688.1:c.350C>A
ENST00000463868.5:n.356-691C>A
ENST00000477869.5:n.239C>A
ENST00000493869.1:n.435C>A
NM_000032.4:c.495C>A	NP_000023.2:p.Phe165Leu
NM_001037967.3:c.384C>A	NP_001033056.1:p.Phe128Leu
NM_001037968.3:c.456C>A	NP_001033057.1:p.Phe152Leu
XM_005261995.2:c.567C>A	XP_005262052.1:p.Phe189Leu
XM_011530771.1:c.-223-691C>A	XP_011529073.1:n.-223-691C>A
NM_000032.5:c.495C>A MANE Select	NP_000023.2:p.Phe165Leu
NM_001037967.4:c.384C>A	NP_001033056.1:p.Phe128Leu
NM_001037968.4:c.456C>A	NP_001033057.1:p.Phe152Leu