Canonical Allele Identifier: CA374185391

Gene: XPA

Linked Data

• gnomAD v4: 9-97675506-A-G
• MyVariant Identifiers: chr9:g.100437788A>G (hg19) ; chr9:g.97675506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675506A>G , CM000671.2:g.97675506A>G	GRCh38
NC_000009.11:g.100437788A>G , CM000671.1:g.100437788A>G	GRCh37
NC_000009.10:g.99477609A>G	NCBI36
NG_011642.1:g.26904T>C , LRG_471:g.26904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.755T>C MANE Select	ENSP00000364270.5:p.Leu252Pro
ENST00000375128.4:c.755T>C	ENSP00000364270.4:p.Leu252Pro
ENST00000462523.5:c.*191T>C	ENSP00000433006.1:n.*191T>C
ENST00000485042.1:n.267T>C
NM_000380.3:c.755T>C , LRG_471t1:c.755T>C	NP_000371.1:p.Leu252Pro
NR_027302.1:n.1103T>C
XM_006717278.1:c.755T>C	XP_006717341.1:p.Leu252Pro
XM_011518988.1:c.755T>C	XP_011517290.1:p.Leu252Pro
XR_929839.1:n.1286T>C
NM_001354975.1:c.629T>C	NP_001341904.1:p.Leu210Pro
NR_149091.1:n.600T>C
NR_149092.1:n.766T>C
NR_149093.1:n.1292T>C
NR_149094.1:n.1186T>C
NM_000380.4:c.755T>C MANE Select	NP_000371.1:p.Leu252Pro
NM_001354975.2:c.629T>C	NP_001341904.1:p.Leu210Pro
NR_027302.2:n.1034T>C
NR_149091.2:n.531T>C
NR_149092.2:n.697T>C
NR_149093.2:n.1223T>C
NR_149094.2:n.1117T>C