Canonical Allele Identifier: CA374185254

Gene: XPA

Linked Data

• dbSNP Id: rs1212966213
• gnomAD v3: 9-97675444-T-G
• gnomAD v4: 9-97675444-T-G
• MyVariant Identifiers: chr9:g.100437726T>G (hg19) ; chr9:g.97675444T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675444T>G , CM000671.2:g.97675444T>G	GRCh38
NC_000009.11:g.100437726T>G , CM000671.1:g.100437726T>G	GRCh37
NC_000009.10:g.99477547T>G	NCBI36
NG_011642.1:g.26966A>C , LRG_471:g.26966A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.817A>C MANE Select	ENSP00000364270.5:p.Met273Leu
ENST00000375128.4:c.817A>C	ENSP00000364270.4:p.Met273Leu
ENST00000462523.5:c.*253A>C	ENSP00000433006.1:n.*253A>C
ENST00000485042.1:n.329A>C
NM_000380.3:c.817A>C , LRG_471t1:c.817A>C	NP_000371.1:p.Met273Leu
NR_027302.1:n.1165A>C
XM_006717278.1:c.772+45A>C	XP_006717341.1:n.772+45A>C
XM_011518988.1:c.772+45A>C	XP_011517290.1:n.772+45A>C
NM_001354975.1:c.691A>C	NP_001341904.1:p.Met231Leu
NR_149091.1:n.662A>C
NR_149092.1:n.828A>C
NR_149093.1:n.1354A>C
NR_149094.1:n.1248A>C
NM_000380.4:c.817A>C MANE Select	NP_000371.1:p.Met273Leu
NM_001354975.2:c.691A>C	NP_001341904.1:p.Met231Leu
NR_027302.2:n.1096A>C
NR_149091.2:n.593A>C
NR_149092.2:n.759A>C
NR_149093.2:n.1285A>C
NR_149094.2:n.1179A>C