Canonical Allele Identifier: CA374185427

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437805A>C (hg19) ; chr9:g.97675523A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675523A>C , CM000671.2:g.97675523A>C	GRCh38
NC_000009.11:g.100437805A>C , CM000671.1:g.100437805A>C	GRCh37
NC_000009.10:g.99477626A>C	NCBI36
NG_011642.1:g.26887T>G , LRG_471:g.26887T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.738T>G MANE Select	ENSP00000364270.5:p.Tyr246Ter
ENST00000375128.4:c.738T>G	ENSP00000364270.4:p.Tyr246Ter
ENST00000462523.5:c.*174T>G	ENSP00000433006.1:n.*174T>G
ENST00000485042.1:n.250T>G
NM_000380.3:c.738T>G , LRG_471t1:c.738T>G	NP_000371.1:p.Tyr246Ter
NR_027302.1:n.1086T>G
XM_006717278.1:c.738T>G	XP_006717341.1:p.Tyr246Ter
XM_011518988.1:c.738T>G	XP_011517290.1:p.Tyr246Ter
XR_929839.1:n.1269T>G
NM_001354975.1:c.612T>G	NP_001341904.1:p.Tyr204Ter
NR_149091.1:n.583T>G
NR_149092.1:n.749T>G
NR_149093.1:n.1275T>G
NR_149094.1:n.1169T>G
NM_000380.4:c.738T>G MANE Select	NP_000371.1:p.Tyr246Ter
NM_001354975.2:c.612T>G	NP_001341904.1:p.Tyr204Ter
NR_027302.2:n.1017T>G
NR_149091.2:n.514T>G
NR_149092.2:n.680T>G
NR_149093.2:n.1206T>G
NR_149094.2:n.1100T>G