Canonical Allele Identifier: CA374185548

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437858C>G (hg19) ; chr9:g.97675576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675576C>G , CM000671.2:g.97675576C>G	GRCh38
NC_000009.11:g.100437858C>G , CM000671.1:g.100437858C>G	GRCh37
NC_000009.10:g.99477679C>G	NCBI36
NG_011642.1:g.26834G>C , LRG_471:g.26834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.685G>C MANE Select	ENSP00000364270.5:p.Ala229Pro
ENST00000375128.4:c.685G>C	ENSP00000364270.4:p.Ala229Pro
ENST00000462523.5:c.*121G>C	ENSP00000433006.1:n.*121G>C
ENST00000485042.1:n.197G>C
NM_000380.3:c.685G>C , LRG_471t1:c.685G>C	NP_000371.1:p.Ala229Pro
NR_027302.1:n.1033G>C
XM_006717278.1:c.685G>C	XP_006717341.1:p.Ala229Pro
XM_011518988.1:c.685G>C	XP_011517290.1:p.Ala229Pro
XR_929839.1:n.1216G>C
NM_001354975.1:c.559G>C	NP_001341904.1:p.Ala187Pro
NR_149091.1:n.530G>C
NR_149092.1:n.696G>C
NR_149093.1:n.1222G>C
NR_149094.1:n.1116G>C
NM_000380.4:c.685G>C MANE Select	NP_000371.1:p.Ala229Pro
NM_001354975.2:c.559G>C	NP_001341904.1:p.Ala187Pro
NR_027302.2:n.964G>C
NR_149091.2:n.461G>C
NR_149092.2:n.627G>C
NR_149093.2:n.1153G>C
NR_149094.2:n.1047G>C