Canonical Allele Identifier: CA374185469

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437823A>C (hg19) ; chr9:g.97675541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675541A>C , CM000671.2:g.97675541A>C	GRCh38
NC_000009.11:g.100437823A>C , CM000671.1:g.100437823A>C	GRCh37
NC_000009.10:g.99477644A>C	NCBI36
NG_011642.1:g.26869T>G , LRG_471:g.26869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.720T>G MANE Select	ENSP00000364270.5:p.Ile240Met
ENST00000375128.4:c.720T>G	ENSP00000364270.4:p.Ile240Met
ENST00000462523.5:c.*156T>G	ENSP00000433006.1:n.*156T>G
ENST00000485042.1:n.232T>G
NM_000380.3:c.720T>G , LRG_471t1:c.720T>G	NP_000371.1:p.Ile240Met
NR_027302.1:n.1068T>G
XM_006717278.1:c.720T>G	XP_006717341.1:p.Ile240Met
XM_011518988.1:c.720T>G	XP_011517290.1:p.Ile240Met
XR_929839.1:n.1251T>G
NM_001354975.1:c.594T>G	NP_001341904.1:p.Ile198Met
NR_149091.1:n.565T>G
NR_149092.1:n.731T>G
NR_149093.1:n.1257T>G
NR_149094.1:n.1151T>G
NM_000380.4:c.720T>G MANE Select	NP_000371.1:p.Ile240Met
NM_001354975.2:c.594T>G	NP_001341904.1:p.Ile198Met
NR_027302.2:n.999T>G
NR_149091.2:n.496T>G
NR_149092.2:n.662T>G
NR_149093.2:n.1188T>G
NR_149094.2:n.1082T>G