Canonical Allele Identifier: CA374185460

Gene: XPA

Linked Data

• gnomAD v4: 9-97675536-T-G
• MyVariant Identifiers: chr9:g.100437818T>G (hg19) ; chr9:g.97675536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675536T>G , CM000671.2:g.97675536T>G	GRCh38
NC_000009.11:g.100437818T>G , CM000671.1:g.100437818T>G	GRCh37
NC_000009.10:g.99477639T>G	NCBI36
NG_011642.1:g.26874A>C , LRG_471:g.26874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.725A>C MANE Select	ENSP00000364270.5:p.His242Pro
ENST00000375128.4:c.725A>C	ENSP00000364270.4:p.His242Pro
ENST00000462523.5:c.*161A>C	ENSP00000433006.1:n.*161A>C
ENST00000485042.1:n.237A>C
NM_000380.3:c.725A>C , LRG_471t1:c.725A>C	NP_000371.1:p.His242Pro
NR_027302.1:n.1073A>C
XM_006717278.1:c.725A>C	XP_006717341.1:p.His242Pro
XM_011518988.1:c.725A>C	XP_011517290.1:p.His242Pro
XR_929839.1:n.1256A>C
NM_001354975.1:c.599A>C	NP_001341904.1:p.His200Pro
NR_149091.1:n.570A>C
NR_149092.1:n.736A>C
NR_149093.1:n.1262A>C
NR_149094.1:n.1156A>C
NM_000380.4:c.725A>C MANE Select	NP_000371.1:p.His242Pro
NM_001354975.2:c.599A>C	NP_001341904.1:p.His200Pro
NR_027302.2:n.1004A>C
NR_149091.2:n.501A>C
NR_149092.2:n.667A>C
NR_149093.2:n.1193A>C
NR_149094.2:n.1087A>C