Canonical Allele Identifier: CA196741935

Gene: XPA

Linked Data

• dbSNP Id: rs57519506
• MyVariant Identifiers: chr9:g.100437777T>G (hg19) ; chr9:g.97675495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675495T>G , CM000671.2:g.97675495T>G	GRCh38
NC_000009.11:g.100437777T>G , CM000671.1:g.100437777T>G	GRCh37
NC_000009.10:g.99477598T>G	NCBI36
NG_011642.1:g.26915A>C , LRG_471:g.26915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.766A>C MANE Select	ENSP00000364270.5:p.Met256Leu
ENST00000375128.4:c.766A>C	ENSP00000364270.4:p.Met256Leu
ENST00000462523.5:c.*202A>C	ENSP00000433006.1:n.*202A>C
ENST00000485042.1:n.278A>C
NM_000380.3:c.766A>C , LRG_471t1:c.766A>C	NP_000371.1:p.Met256Leu
NR_027302.1:n.1114A>C
XM_006717278.1:c.766A>C	XP_006717341.1:p.Met256Leu
XM_011518988.1:c.766A>C	XP_011517290.1:p.Met256Leu
NM_001354975.1:c.640A>C	NP_001341904.1:p.Met214Leu
NR_149091.1:n.611A>C
NR_149092.1:n.777A>C
NR_149093.1:n.1303A>C
NR_149094.1:n.1197A>C
NM_000380.4:c.766A>C MANE Select	NP_000371.1:p.Met256Leu
NM_001354975.2:c.640A>C	NP_001341904.1:p.Met214Leu
NR_027302.2:n.1045A>C
NR_149091.2:n.542A>C
NR_149092.2:n.708A>C
NR_149093.2:n.1234A>C
NR_149094.2:n.1128A>C