Canonical Allele Identifier: CA374185351

Gene: XPA

Linked Data

• dbSNP Id: rs763929562
• gnomAD v2: 9-100437770-C-A
• gnomAD v4: 9-97675488-C-A
• MyVariant Identifiers: chr9:g.100437770C>A (hg19) ; chr9:g.97675488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675488C>A , CM000671.2:g.97675488C>A	GRCh38
NC_000009.11:g.100437770C>A , CM000671.1:g.100437770C>A	GRCh37
NC_000009.10:g.99477591C>A	NCBI36
NG_011642.1:g.26922G>T , LRG_471:g.26922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.773G>T MANE Select	ENSP00000364270.5:p.Arg258Leu
ENST00000375128.4:c.773G>T	ENSP00000364270.4:p.Arg258Leu
ENST00000462523.5:c.*209G>T	ENSP00000433006.1:n.*209G>T
ENST00000485042.1:n.285G>T
NM_000380.3:c.773G>T , LRG_471t1:c.773G>T	NP_000371.1:p.Arg258Leu
NR_027302.1:n.1121G>T
XM_006717278.1:c.772+1G>T	XP_006717341.1:n.772+1G>T
XM_011518988.1:c.772+1G>T	XP_011517290.1:n.772+1G>T
NM_001354975.1:c.647G>T	NP_001341904.1:p.Arg216Leu
NR_149091.1:n.618G>T
NR_149092.1:n.784G>T
NR_149093.1:n.1310G>T
NR_149094.1:n.1204G>T
NM_000380.4:c.773G>T MANE Select	NP_000371.1:p.Arg258Leu
NM_001354975.2:c.647G>T	NP_001341904.1:p.Arg216Leu
NR_027302.2:n.1052G>T
NR_149091.2:n.549G>T
NR_149092.2:n.715G>T
NR_149093.2:n.1241G>T
NR_149094.2:n.1135G>T