Canonical Allele Identifier: CA374185436

Gene: XPA

Linked Data

• dbSNP Id: rs1213747369
• gnomAD v4: 9-97675527-T-A
• MyVariant Identifiers: chr9:g.100437809T>A (hg19) ; chr9:g.97675527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675527T>A , CM000671.2:g.97675527T>A	GRCh38
NC_000009.11:g.100437809T>A , CM000671.1:g.100437809T>A	GRCh37
NC_000009.10:g.99477630T>A	NCBI36
NG_011642.1:g.26883A>T , LRG_471:g.26883A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.734A>T MANE Select	ENSP00000364270.5:p.Glu245Val
ENST00000375128.4:c.734A>T	ENSP00000364270.4:p.Glu245Val
ENST00000462523.5:c.*170A>T	ENSP00000433006.1:n.*170A>T
ENST00000485042.1:n.246A>T
NM_000380.3:c.734A>T , LRG_471t1:c.734A>T	NP_000371.1:p.Glu245Val
NR_027302.1:n.1082A>T
XM_006717278.1:c.734A>T	XP_006717341.1:p.Glu245Val
XM_011518988.1:c.734A>T	XP_011517290.1:p.Glu245Val
XR_929839.1:n.1265A>T
NM_001354975.1:c.608A>T	NP_001341904.1:p.Glu203Val
NR_149091.1:n.579A>T
NR_149092.1:n.745A>T
NR_149093.1:n.1271A>T
NR_149094.1:n.1165A>T
NM_000380.4:c.734A>T MANE Select	NP_000371.1:p.Glu245Val
NM_001354975.2:c.608A>T	NP_001341904.1:p.Glu203Val
NR_027302.2:n.1013A>T
NR_149091.2:n.510A>T
NR_149092.2:n.676A>T
NR_149093.2:n.1202A>T
NR_149094.2:n.1096A>T