Canonical Allele Identifier: CA374185326

Gene: XPA

Linked Data

• gnomAD v4: 9-97675474-T-C
• MyVariant Identifiers: chr9:g.100437756T>C (hg19) ; chr9:g.97675474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675474T>C , CM000671.2:g.97675474T>C	GRCh38
NC_000009.11:g.100437756T>C , CM000671.1:g.100437756T>C	GRCh37
NC_000009.10:g.99477577T>C	NCBI36
NG_011642.1:g.26936A>G , LRG_471:g.26936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.787A>G MANE Select	ENSP00000364270.5:p.Met263Val
ENST00000375128.4:c.787A>G	ENSP00000364270.4:p.Met263Val
ENST00000462523.5:c.*223A>G	ENSP00000433006.1:n.*223A>G
ENST00000485042.1:n.299A>G
NM_000380.3:c.787A>G , LRG_471t1:c.787A>G	NP_000371.1:p.Met263Val
NR_027302.1:n.1135A>G
XM_006717278.1:c.772+15A>G	XP_006717341.1:n.772+15A>G
XM_011518988.1:c.772+15A>G	XP_011517290.1:n.772+15A>G
NM_001354975.1:c.661A>G	NP_001341904.1:p.Met221Val
NR_149091.1:n.632A>G
NR_149092.1:n.798A>G
NR_149093.1:n.1324A>G
NR_149094.1:n.1218A>G
NM_000380.4:c.787A>G MANE Select	NP_000371.1:p.Met263Val
NM_001354975.2:c.661A>G	NP_001341904.1:p.Met221Val
NR_027302.2:n.1066A>G
NR_149091.2:n.563A>G
NR_149092.2:n.729A>G
NR_149093.2:n.1255A>G
NR_149094.2:n.1149A>G