Canonical Allele Identifier: CA374185504

Gene: XPA

Linked Data

• dbSNP Id: rs1170251457
• gnomAD v3: 9-97675556-C-T
• gnomAD v4: 9-97675556-C-T
• MyVariant Identifiers: chr9:g.100437838C>T (hg19) ; chr9:g.97675556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675556C>T , CM000671.2:g.97675556C>T	GRCh38
NC_000009.11:g.100437838C>T , CM000671.1:g.100437838C>T	GRCh37
NC_000009.10:g.99477659C>T	NCBI36
NG_011642.1:g.26854G>A , LRG_471:g.26854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.705G>A MANE Select	ENSP00000364270.5:p.Trp235Ter
ENST00000375128.4:c.705G>A	ENSP00000364270.4:p.Trp235Ter
ENST00000462523.5:c.*141G>A	ENSP00000433006.1:n.*141G>A
ENST00000485042.1:n.217G>A
NM_000380.3:c.705G>A , LRG_471t1:c.705G>A	NP_000371.1:p.Trp235Ter
NR_027302.1:n.1053G>A
XM_006717278.1:c.705G>A	XP_006717341.1:p.Trp235Ter
XM_011518988.1:c.705G>A	XP_011517290.1:p.Trp235Ter
XR_929839.1:n.1236G>A
NM_001354975.1:c.579G>A	NP_001341904.1:p.Trp193Ter
NR_149091.1:n.550G>A
NR_149092.1:n.716G>A
NR_149093.1:n.1242G>A
NR_149094.1:n.1136G>A
NM_000380.4:c.705G>A MANE Select	NP_000371.1:p.Trp235Ter
NM_001354975.2:c.579G>A	NP_001341904.1:p.Trp193Ter
NR_027302.2:n.984G>A
NR_149091.2:n.481G>A
NR_149092.2:n.647G>A
NR_149093.2:n.1173G>A
NR_149094.2:n.1067G>A