Canonical Allele Identifier: CA374185361

Gene: XPA

Linked Data

• gnomAD v4: 9-97675493-C-A
• MyVariant Identifiers: chr9:g.100437775C>A (hg19) ; chr9:g.97675493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675493C>A , CM000671.2:g.97675493C>A	GRCh38
NC_000009.11:g.100437775C>A , CM000671.1:g.100437775C>A	GRCh37
NC_000009.10:g.99477596C>A	NCBI36
NG_011642.1:g.26917G>T , LRG_471:g.26917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.768G>T MANE Select	ENSP00000364270.5:p.Met256Ile
ENST00000375128.4:c.768G>T	ENSP00000364270.4:p.Met256Ile
ENST00000462523.5:c.*204G>T	ENSP00000433006.1:n.*204G>T
ENST00000485042.1:n.280G>T
NM_000380.3:c.768G>T , LRG_471t1:c.768G>T	NP_000371.1:p.Met256Ile
NR_027302.1:n.1116G>T
XM_006717278.1:c.768G>T	XP_006717341.1:p.Met256Ile
XM_011518988.1:c.768G>T	XP_011517290.1:p.Met256Ile
NM_001354975.1:c.642G>T	NP_001341904.1:p.Met214Ile
NR_149091.1:n.613G>T
NR_149092.1:n.779G>T
NR_149093.1:n.1305G>T
NR_149094.1:n.1199G>T
NM_000380.4:c.768G>T MANE Select	NP_000371.1:p.Met256Ile
NM_001354975.2:c.642G>T	NP_001341904.1:p.Met214Ile
NR_027302.2:n.1047G>T
NR_149091.2:n.544G>T
NR_149092.2:n.710G>T
NR_149093.2:n.1236G>T
NR_149094.2:n.1130G>T