Canonical Allele Identifier: CA374185371

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437780C>A (hg19) ; chr9:g.97675498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675498C>A , CM000671.2:g.97675498C>A	GRCh38
NC_000009.11:g.100437780C>A , CM000671.1:g.100437780C>A	GRCh37
NC_000009.10:g.99477601C>A	NCBI36
NG_011642.1:g.26912G>T , LRG_471:g.26912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.763G>T MANE Select	ENSP00000364270.5:p.Asp255Tyr
ENST00000375128.4:c.763G>T	ENSP00000364270.4:p.Asp255Tyr
ENST00000462523.5:c.*199G>T	ENSP00000433006.1:n.*199G>T
ENST00000485042.1:n.275G>T
NM_000380.3:c.763G>T , LRG_471t1:c.763G>T	NP_000371.1:p.Asp255Tyr
NR_027302.1:n.1111G>T
XM_006717278.1:c.763G>T	XP_006717341.1:p.Asp255Tyr
XM_011518988.1:c.763G>T	XP_011517290.1:p.Asp255Tyr
XR_929839.1:n.1294G>T
NM_001354975.1:c.637G>T	NP_001341904.1:p.Asp213Tyr
NR_149091.1:n.608G>T
NR_149092.1:n.774G>T
NR_149093.1:n.1300G>T
NR_149094.1:n.1194G>T
NM_000380.4:c.763G>T MANE Select	NP_000371.1:p.Asp255Tyr
NM_001354975.2:c.637G>T	NP_001341904.1:p.Asp213Tyr
NR_027302.2:n.1042G>T
NR_149091.2:n.539G>T
NR_149092.2:n.705G>T
NR_149093.2:n.1231G>T
NR_149094.2:n.1125G>T