Canonical Allele Identifier: CA2693865066

Gene: ALAS2

Linked Data

• gnomAD v4: X-55015488-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015488C>T , CM000685.2:g.55015488C>T	GRCh38
NC_000023.10:g.55041921C>T , CM000685.1:g.55041921C>T	GRCh37
NC_000023.9:g.55058646C>T	NCBI36
NG_008983.1:g.20577G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1168+90G>A MANE Select	ENSP00000497236.1:n.1168+90G>A
ENST00000330807.9:c.1168+90G>A	ENSP00000332369.5:n.1168+90G>A
ENST00000335854.8:c.1057+90G>A	ENSP00000337131.4:n.1057+90G>A
ENST00000396198.7:c.1129+90G>A	ENSP00000379501.3:n.1129+90G>A
ENST00000498636.1:n.459+90G>A
NM_000032.4:c.1168+90G>A	NP_000023.2:n.1168+90G>A
NM_001037967.3:c.1057+90G>A	NP_001033056.1:n.1057+90G>A
NM_001037968.3:c.1129+90G>A	NP_001033057.1:n.1129+90G>A
XM_005261995.2:c.1240+90G>A	XP_005262052.1:n.1240+90G>A
XM_011530771.1:c.307+90G>A	XP_011529073.1:n.307+90G>A
NM_000032.5:c.1168+90G>A MANE Select	NP_000023.2:n.1168+90G>A
NM_001037967.4:c.1057+90G>A	NP_001033056.1:n.1057+90G>A
NM_001037968.4:c.1129+90G>A	NP_001033057.1:n.1129+90G>A