Canonical Allele Identifier: CA374185442

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437811A>C (hg19) ; chr9:g.97675529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675529A>C , CM000671.2:g.97675529A>C	GRCh38
NC_000009.11:g.100437811A>C , CM000671.1:g.100437811A>C	GRCh37
NC_000009.10:g.99477632A>C	NCBI36
NG_011642.1:g.26881T>G , LRG_471:g.26881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.732T>G MANE Select	ENSP00000364270.5:p.His244Gln
ENST00000375128.4:c.732T>G	ENSP00000364270.4:p.His244Gln
ENST00000462523.5:c.*168T>G	ENSP00000433006.1:n.*168T>G
ENST00000485042.1:n.244T>G
NM_000380.3:c.732T>G , LRG_471t1:c.732T>G	NP_000371.1:p.His244Gln
NR_027302.1:n.1080T>G
XM_006717278.1:c.732T>G	XP_006717341.1:p.His244Gln
XM_011518988.1:c.732T>G	XP_011517290.1:p.His244Gln
XR_929839.1:n.1263T>G
NM_001354975.1:c.606T>G	NP_001341904.1:p.His202Gln
NR_149091.1:n.577T>G
NR_149092.1:n.743T>G
NR_149093.1:n.1269T>G
NR_149094.1:n.1163T>G
NM_000380.4:c.732T>G MANE Select	NP_000371.1:p.His244Gln
NM_001354975.2:c.606T>G	NP_001341904.1:p.His202Gln
NR_027302.2:n.1011T>G
NR_149091.2:n.508T>G
NR_149092.2:n.674T>G
NR_149093.2:n.1200T>G
NR_149094.2:n.1094T>G