Canonical Allele Identifier: CA466174824

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437820A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675538A>C , CM000671.2:g.97675538A>C	GRCh38
NC_000009.11:g.100437820A>C , CM000671.1:g.100437820A>C	GRCh37
NC_000009.10:g.99477641A>C	NCBI36
NG_011642.1:g.26872T>G , LRG_471:g.26872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.723T>G MANE Select	ENSP00000364270.5:p.Val241=
ENST00000375128.4:c.723T>G	ENSP00000364270.4:p.Val241=
ENST00000462523.5:c.*159T>G	ENSP00000433006.1:n.*159T>G
ENST00000485042.1:n.235T>G
NM_000380.3:c.723T>G , LRG_471t1:c.723T>G	NP_000371.1:p.Val241=
NR_027302.1:n.1071T>G
XM_006717278.1:c.723T>G	XP_006717341.1:p.Val241=
XM_011518988.1:c.723T>G	XP_011517290.1:p.Val241=
XR_929839.1:n.1254T>G
NM_001354975.1:c.597T>G	NP_001341904.1:p.Val199=
NR_149091.1:n.568T>G
NR_149092.1:n.734T>G
NR_149093.1:n.1260T>G
NR_149094.1:n.1154T>G
NM_000380.4:c.723T>G MANE Select	NP_000371.1:p.Val241=
NM_001354975.2:c.597T>G	NP_001341904.1:p.Val199=
NR_027302.2:n.1002T>G
NR_149091.2:n.499T>G
NR_149092.2:n.665T>G
NR_149093.2:n.1191T>G
NR_149094.2:n.1085T>G