Canonical Allele Identifier: CA5148689

Gene: XPA

Linked Data

• dbSNP Id: rs749724416
• ExAC: 9:100437803 C / T
• gnomAD v2: 9-100437803-C-T
• gnomAD v4: 9-97675521-C-T
• MyVariant Identifiers: chr9:g.100437803C>T (hg19) ; chr9:g.97675521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675521C>T , CM000671.2:g.97675521C>T	GRCh38
NC_000009.11:g.100437803C>T , CM000671.1:g.100437803C>T	GRCh37
NC_000009.10:g.99477624C>T	NCBI36
NG_011642.1:g.26889G>A , LRG_471:g.26889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.740G>A MANE Select	ENSP00000364270.5:p.Gly247Glu
ENST00000375128.4:c.740G>A	ENSP00000364270.4:p.Gly247Glu
ENST00000462523.5:c.*176G>A	ENSP00000433006.1:n.*176G>A
ENST00000485042.1:n.252G>A
NM_000380.3:c.740G>A , LRG_471t1:c.740G>A	NP_000371.1:p.Gly247Glu
NR_027302.1:n.1088G>A
XM_006717278.1:c.740G>A	XP_006717341.1:p.Gly247Glu
XM_011518988.1:c.740G>A	XP_011517290.1:p.Gly247Glu
XR_929839.1:n.1271G>A
NM_001354975.1:c.614G>A	NP_001341904.1:p.Gly205Glu
NR_149091.1:n.585G>A
NR_149092.1:n.751G>A
NR_149093.1:n.1277G>A
NR_149094.1:n.1171G>A
NM_000380.4:c.740G>A MANE Select	NP_000371.1:p.Gly247Glu
NM_001354975.2:c.614G>A	NP_001341904.1:p.Gly205Glu
NR_027302.2:n.1019G>A
NR_149091.2:n.516G>A
NR_149092.2:n.682G>A
NR_149093.2:n.1208G>A
NR_149094.2:n.1102G>A