Canonical Allele Identifier: CA413294329

Gene: ALAS2

Linked Data

• gnomAD v4: X-55017534-G-A
• MyVariant Identifiers: chrX:g.55043967G>A (hg19) ; chrX:g.55017534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017534G>A , CM000685.2:g.55017534G>A	GRCh38
NC_000023.10:g.55043967G>A , CM000685.1:g.55043967G>A	GRCh37
NC_000023.9:g.55060692G>A	NCBI36
NG_008983.1:g.18531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.955C>T MANE Select	ENSP00000497236.1:p.Pro319Ser
ENST00000330807.9:c.955C>T	ENSP00000332369.5:p.Pro319Ser
ENST00000335854.8:c.844C>T	ENSP00000337131.4:p.Pro282Ser
ENST00000396198.7:c.916C>T	ENSP00000379501.3:p.Pro306Ser
ENST00000498636.1:n.246C>T
NM_000032.4:c.955C>T	NP_000023.2:p.Pro319Ser
NM_001037967.3:c.844C>T	NP_001033056.1:p.Pro282Ser
NM_001037968.3:c.916C>T	NP_001033057.1:p.Pro306Ser
XM_005261995.2:c.1027C>T	XP_005262052.1:p.Pro343Ser
XM_011530771.1:c.94C>T	XP_011529073.1:p.Pro32Ser
NM_000032.5:c.955C>T MANE Select	NP_000023.2:p.Pro319Ser
NM_001037967.4:c.844C>T	NP_001033056.1:p.Pro282Ser
NM_001037968.4:c.916C>T	NP_001033057.1:p.Pro306Ser