Canonical Allele Identifier: CA374185433

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437807A>T (hg19) ; chr9:g.97675525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675525A>T , CM000671.2:g.97675525A>T	GRCh38
NC_000009.11:g.100437807A>T , CM000671.1:g.100437807A>T	GRCh37
NC_000009.10:g.99477628A>T	NCBI36
NG_011642.1:g.26885T>A , LRG_471:g.26885T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.736T>A MANE Select	ENSP00000364270.5:p.Tyr246Asn
ENST00000375128.4:c.736T>A	ENSP00000364270.4:p.Tyr246Asn
ENST00000462523.5:c.*172T>A	ENSP00000433006.1:n.*172T>A
ENST00000485042.1:n.248T>A
NM_000380.3:c.736T>A , LRG_471t1:c.736T>A	NP_000371.1:p.Tyr246Asn
NR_027302.1:n.1084T>A
XM_006717278.1:c.736T>A	XP_006717341.1:p.Tyr246Asn
XM_011518988.1:c.736T>A	XP_011517290.1:p.Tyr246Asn
XR_929839.1:n.1267T>A
NM_001354975.1:c.610T>A	NP_001341904.1:p.Tyr204Asn
NR_149091.1:n.581T>A
NR_149092.1:n.747T>A
NR_149093.1:n.1273T>A
NR_149094.1:n.1167T>A
NM_000380.4:c.736T>A MANE Select	NP_000371.1:p.Tyr246Asn
NM_001354975.2:c.610T>A	NP_001341904.1:p.Tyr204Asn
NR_027302.2:n.1015T>A
NR_149091.2:n.512T>A
NR_149092.2:n.678T>A
NR_149093.2:n.1204T>A
NR_149094.2:n.1098T>A