Canonical Allele Identifier: CA374185508

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437839C>G (hg19) ; chr9:g.97675557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675557C>G , CM000671.2:g.97675557C>G	GRCh38
NC_000009.11:g.100437839C>G , CM000671.1:g.100437839C>G	GRCh37
NC_000009.10:g.99477660C>G	NCBI36
NG_011642.1:g.26853G>C , LRG_471:g.26853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.704G>C MANE Select	ENSP00000364270.5:p.Trp235Ser
ENST00000375128.4:c.704G>C	ENSP00000364270.4:p.Trp235Ser
ENST00000462523.5:c.*140G>C	ENSP00000433006.1:n.*140G>C
ENST00000485042.1:n.216G>C
NM_000380.3:c.704G>C , LRG_471t1:c.704G>C	NP_000371.1:p.Trp235Ser
NR_027302.1:n.1052G>C
XM_006717278.1:c.704G>C	XP_006717341.1:p.Trp235Ser
XM_011518988.1:c.704G>C	XP_011517290.1:p.Trp235Ser
XR_929839.1:n.1235G>C
NM_001354975.1:c.578G>C	NP_001341904.1:p.Trp193Ser
NR_149091.1:n.549G>C
NR_149092.1:n.715G>C
NR_149093.1:n.1241G>C
NR_149094.1:n.1135G>C
NM_000380.4:c.704G>C MANE Select	NP_000371.1:p.Trp235Ser
NM_001354975.2:c.578G>C	NP_001341904.1:p.Trp193Ser
NR_027302.2:n.983G>C
NR_149091.2:n.480G>C
NR_149092.2:n.646G>C
NR_149093.2:n.1172G>C
NR_149094.2:n.1066G>C