Canonical Allele Identifier: CA374185445

Gene: XPA

Linked Data

• gnomAD v4: 9-97675530-T-G
• MyVariant Identifiers: chr9:g.100437812T>G (hg19) ; chr9:g.97675530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675530T>G , CM000671.2:g.97675530T>G	GRCh38
NC_000009.11:g.100437812T>G , CM000671.1:g.100437812T>G	GRCh37
NC_000009.10:g.99477633T>G	NCBI36
NG_011642.1:g.26880A>C , LRG_471:g.26880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.731A>C MANE Select	ENSP00000364270.5:p.His244Pro
ENST00000375128.4:c.731A>C	ENSP00000364270.4:p.His244Pro
ENST00000462523.5:c.*167A>C	ENSP00000433006.1:n.*167A>C
ENST00000485042.1:n.243A>C
NM_000380.3:c.731A>C , LRG_471t1:c.731A>C	NP_000371.1:p.His244Pro
NR_027302.1:n.1079A>C
XM_006717278.1:c.731A>C	XP_006717341.1:p.His244Pro
XM_011518988.1:c.731A>C	XP_011517290.1:p.His244Pro
XR_929839.1:n.1262A>C
NM_001354975.1:c.605A>C	NP_001341904.1:p.His202Pro
NR_149091.1:n.576A>C
NR_149092.1:n.742A>C
NR_149093.1:n.1268A>C
NR_149094.1:n.1162A>C
NM_000380.4:c.731A>C MANE Select	NP_000371.1:p.His244Pro
NM_001354975.2:c.605A>C	NP_001341904.1:p.His202Pro
NR_027302.2:n.1010A>C
NR_149091.2:n.507A>C
NR_149092.2:n.673A>C
NR_149093.2:n.1199A>C
NR_149094.2:n.1093A>C