Canonical Allele Identifier: CA374185440

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437810C>G (hg19) ; chr9:g.97675528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675528C>G , CM000671.2:g.97675528C>G	GRCh38
NC_000009.11:g.100437810C>G , CM000671.1:g.100437810C>G	GRCh37
NC_000009.10:g.99477631C>G	NCBI36
NG_011642.1:g.26882G>C , LRG_471:g.26882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.733G>C MANE Select	ENSP00000364270.5:p.Glu245Gln
ENST00000375128.4:c.733G>C	ENSP00000364270.4:p.Glu245Gln
ENST00000462523.5:c.*169G>C	ENSP00000433006.1:n.*169G>C
ENST00000485042.1:n.245G>C
NM_000380.3:c.733G>C , LRG_471t1:c.733G>C	NP_000371.1:p.Glu245Gln
NR_027302.1:n.1081G>C
XM_006717278.1:c.733G>C	XP_006717341.1:p.Glu245Gln
XM_011518988.1:c.733G>C	XP_011517290.1:p.Glu245Gln
XR_929839.1:n.1264G>C
NM_001354975.1:c.607G>C	NP_001341904.1:p.Glu203Gln
NR_149091.1:n.578G>C
NR_149092.1:n.744G>C
NR_149093.1:n.1270G>C
NR_149094.1:n.1164G>C
NM_000380.4:c.733G>C MANE Select	NP_000371.1:p.Glu245Gln
NM_001354975.2:c.607G>C	NP_001341904.1:p.Glu203Gln
NR_027302.2:n.1012G>C
NR_149091.2:n.509G>C
NR_149092.2:n.675G>C
NR_149093.2:n.1201G>C
NR_149094.2:n.1095G>C