Canonical Allele Identifier: CA374185356

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437773T>C (hg19) ; chr9:g.97675491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675491T>C , CM000671.2:g.97675491T>C	GRCh38
NC_000009.11:g.100437773T>C , CM000671.1:g.100437773T>C	GRCh37
NC_000009.10:g.99477594T>C	NCBI36
NG_011642.1:g.26919A>G , LRG_471:g.26919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.770A>G MANE Select	ENSP00000364270.5:p.Tyr257Cys
ENST00000375128.4:c.770A>G	ENSP00000364270.4:p.Tyr257Cys
ENST00000462523.5:c.*206A>G	ENSP00000433006.1:n.*206A>G
ENST00000485042.1:n.282A>G
NM_000380.3:c.770A>G , LRG_471t1:c.770A>G	NP_000371.1:p.Tyr257Cys
NR_027302.1:n.1118A>G
XM_006717278.1:c.770A>G	XP_006717341.1:p.Tyr257Cys
XM_011518988.1:c.770A>G	XP_011517290.1:p.Tyr257Cys
NM_001354975.1:c.644A>G	NP_001341904.1:p.Tyr215Cys
NR_149091.1:n.615A>G
NR_149092.1:n.781A>G
NR_149093.1:n.1307A>G
NR_149094.1:n.1201A>G
NM_000380.4:c.770A>G MANE Select	NP_000371.1:p.Tyr257Cys
NM_001354975.2:c.644A>G	NP_001341904.1:p.Tyr215Cys
NR_027302.2:n.1049A>G
NR_149091.2:n.546A>G
NR_149092.2:n.712A>G
NR_149093.2:n.1238A>G
NR_149094.2:n.1132A>G