Canonical Allele Identifier: CA466174812

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437799T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675517T>G , CM000671.2:g.97675517T>G	GRCh38
NC_000009.11:g.100437799T>G , CM000671.1:g.100437799T>G	GRCh37
NC_000009.10:g.99477620T>G	NCBI36
NG_011642.1:g.26893A>C , LRG_471:g.26893A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.744A>C MANE Select	ENSP00000364270.5:p.Pro248=
ENST00000375128.4:c.744A>C	ENSP00000364270.4:p.Pro248=
ENST00000462523.5:c.*180A>C	ENSP00000433006.1:n.*180A>C
ENST00000485042.1:n.256A>C
NM_000380.3:c.744A>C , LRG_471t1:c.744A>C	NP_000371.1:p.Pro248=
NR_027302.1:n.1092A>C
XM_006717278.1:c.744A>C	XP_006717341.1:p.Pro248=
XM_011518988.1:c.744A>C	XP_011517290.1:p.Pro248=
XR_929839.1:n.1275A>C
NM_001354975.1:c.618A>C	NP_001341904.1:p.Pro206=
NR_149091.1:n.589A>C
NR_149092.1:n.755A>C
NR_149093.1:n.1281A>C
NR_149094.1:n.1175A>C
NM_000380.4:c.744A>C MANE Select	NP_000371.1:p.Pro248=
NM_001354975.2:c.618A>C	NP_001341904.1:p.Pro206=
NR_027302.2:n.1023A>C
NR_149091.2:n.520A>C
NR_149092.2:n.686A>C
NR_149093.2:n.1212A>C
NR_149094.2:n.1106A>C