Canonical Allele Identifier: CA374185446

Gene: XPA

Linked Data

• gnomAD v4: 9-97675531-G-A
• MyVariant Identifiers: chr9:g.100437813G>A (hg19) ; chr9:g.97675531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675531G>A , CM000671.2:g.97675531G>A	GRCh38
NC_000009.11:g.100437813G>A , CM000671.1:g.100437813G>A	GRCh37
NC_000009.10:g.99477634G>A	NCBI36
NG_011642.1:g.26879C>T , LRG_471:g.26879C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.730C>T MANE Select	ENSP00000364270.5:p.His244Tyr
ENST00000375128.4:c.730C>T	ENSP00000364270.4:p.His244Tyr
ENST00000462523.5:c.*166C>T	ENSP00000433006.1:n.*166C>T
ENST00000485042.1:n.242C>T
NM_000380.3:c.730C>T , LRG_471t1:c.730C>T	NP_000371.1:p.His244Tyr
NR_027302.1:n.1078C>T
XM_006717278.1:c.730C>T	XP_006717341.1:p.His244Tyr
XM_011518988.1:c.730C>T	XP_011517290.1:p.His244Tyr
XR_929839.1:n.1261C>T
NM_001354975.1:c.604C>T	NP_001341904.1:p.His202Tyr
NR_149091.1:n.575C>T
NR_149092.1:n.741C>T
NR_149093.1:n.1267C>T
NR_149094.1:n.1161C>T
NM_000380.4:c.730C>T MANE Select	NP_000371.1:p.His244Tyr
NM_001354975.2:c.604C>T	NP_001341904.1:p.His202Tyr
NR_027302.2:n.1009C>T
NR_149091.2:n.506C>T
NR_149092.2:n.672C>T
NR_149093.2:n.1198C>T
NR_149094.2:n.1092C>T