Canonical Allele Identifier: CA196741771

Gene: XPA

Linked Data

• dbSNP Id: rs915664221
• MyVariant Identifiers: chr9:g.100437693C>G (hg19) ; chr9:g.97675411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675411C>G , CM000671.2:g.97675411C>G	GRCh38
NC_000009.11:g.100437693C>G , CM000671.1:g.100437693C>G	GRCh37
NC_000009.10:g.99477514C>G	NCBI36
NG_011642.1:g.26999G>C , LRG_471:g.26999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*28G>C MANE Select	ENSP00000364270.5:n.*28G>C
ENST00000375128.4:c.*28G>C	ENSP00000364270.4:n.*28G>C
ENST00000462523.5:c.*286G>C	ENSP00000433006.1:n.*286G>C
ENST00000485042.1:n.362G>C
NM_000380.3:c.*28G>C , LRG_471t1:c.*28G>C	NP_000371.1:n.*28G>C
NR_027302.1:n.1198G>C
XM_006717278.1:c.772+78G>C	XP_006717341.1:n.772+78G>C
XM_011518988.1:c.772+78G>C	XP_011517290.1:n.772+78G>C
NM_001354975.1:c.*28G>C	NP_001341904.1:n.*28G>C
NR_149091.1:n.695G>C
NR_149092.1:n.861G>C
NR_149093.1:n.1387G>C
NR_149094.1:n.1281G>C
NM_000380.4:c.*28G>C MANE Select	NP_000371.1:n.*28G>C
NM_001354975.2:c.*28G>C	NP_001341904.1:n.*28G>C
NR_027302.2:n.1129G>C
NR_149091.2:n.626G>C
NR_149092.2:n.792G>C
NR_149093.2:n.1318G>C
NR_149094.2:n.1212G>C