Canonical Allele Identifier: CA374185355

Gene: XPA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.770A>T MANE Select	ENSP00000364270.5:p.Tyr257Phe
ENST00000375128.4:c.770A>T	ENSP00000364270.4:p.Tyr257Phe
ENST00000462523.5:c.*206A>T	ENSP00000433006.1:n.*206A>T
ENST00000485042.1:n.282A>T
NM_000380.3:c.770A>T , LRG_471t1:c.770A>T	NP_000371.1:p.Tyr257Phe
NR_027302.1:n.1118A>T
XM_006717278.1:c.770A>T	XP_006717341.1:p.Tyr257Phe
XM_011518988.1:c.770A>T	XP_011517290.1:p.Tyr257Phe
NM_001354975.1:c.644A>T	NP_001341904.1:p.Tyr215Phe
NR_149091.1:n.615A>T
NR_149092.1:n.781A>T
NR_149093.1:n.1307A>T
NR_149094.1:n.1201A>T
NM_000380.4:c.770A>T MANE Select	NP_000371.1:p.Tyr257Phe
NM_001354975.2:c.644A>T	NP_001341904.1:p.Tyr215Phe
NR_027302.2:n.1049A>T
NR_149091.2:n.546A>T
NR_149092.2:n.712A>T
NR_149093.2:n.1238A>T
NR_149094.2:n.1132A>T