Canonical Allele Identifier: CA469788634

Gene: ERCC6

Linked Data

• dbSNP Id: rs1286402535
• MyVariant Identifiers: chr10:g.50678541G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470495G>A , CM000672.2:g.49470495G>A	GRCh38
NC_000010.10:g.50678541G>A , CM000672.1:g.50678541G>A	GRCh37
NC_000010.9:g.50348547G>A	NCBI36
NG_009442.1:g.73607C>T , LRG_465:g.73607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3465C>T MANE Select	ENSP00000348089.5:p.Tyr1155=
ENST00000679552.1:n.536C>T
ENST00000679871.1:n.611C>T
ENST00000679974.1:n.514C>T
ENST00000681632.1:n.4868C>T
ENST00000681659.1:c.3306C>T	ENSP00000505631.1:p.Tyr1102=
ENST00000355832.9:c.3465C>T	ENSP00000348089.5:p.Tyr1155=
ENST00000623073.3:c.*1761C>T	ENSP00000485650.1:n.*1761C>T
ENST00000623115.3:c.1575C>T	ENSP00000485321.1:p.Tyr525=
ENST00000624341.3:c.1297C>T
NM_000124.3:c.3465C>T	NP_000115.1:p.Tyr1155=
XR_945953.1:n.243-1070G>A
NM_001346440.1:c.3465C>T	NP_001333369.1:p.Tyr1155=
NM_000124.4:c.3465C>T MANE Select	NP_000115.1:p.Tyr1155=
NM_001346440.2:c.3465C>T	NP_001333369.1:p.Tyr1155=