Canonical Allele Identifier: CA516583035

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55047523C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021090C>A , CM000685.2:g.55021090C>A	GRCh38
NC_000023.10:g.55047523C>A , CM000685.1:g.55047523C>A	GRCh37
NC_000023.9:g.55064248C>A	NCBI36
NG_008983.1:g.14975G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.384G>T	ENSP00000407204.2:p.Leu128=
ENST00000477869.6:c.273G>T	ENSP00000496725.1:p.Leu91=
ENST00000493869.2:c.305-586G>T	ENSP00000495713.1:n.305-586G>T
ENST00000650242.1:c.600G>T MANE Select	ENSP00000497236.1:p.Leu200=
ENST00000330807.9:c.600G>T	ENSP00000332369.5:p.Leu200=
ENST00000335854.8:c.489G>T	ENSP00000337131.4:p.Leu163=
ENST00000396198.7:c.561G>T	ENSP00000379501.3:p.Leu187=
ENST00000455688.1:c.455G>T
ENST00000463868.5:n.356-586G>T
ENST00000477869.5:n.344G>T
ENST00000493869.1:n.540G>T
NM_000032.4:c.600G>T	NP_000023.2:p.Leu200=
NM_001037967.3:c.489G>T	NP_001033056.1:p.Leu163=
NM_001037968.3:c.561G>T	NP_001033057.1:p.Leu187=
XM_005261995.2:c.672G>T	XP_005262052.1:p.Leu224=
XM_011530771.1:c.-223-586G>T	XP_011529073.1:n.-223-586G>T
NM_000032.5:c.600G>T MANE Select	NP_000023.2:p.Leu200=
NM_001037967.4:c.489G>T	NP_001033056.1:p.Leu163=
NM_001037968.4:c.561G>T	NP_001033057.1:p.Leu187=