Canonical Allele Identifier: CA376713854

Gene: ERCC6

Linked Data

• dbSNP Id: rs748033001
• MyVariant Identifiers: chr10:g.50678452G>A (hg19) ; chr10:g.49470406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470406G>A , CM000672.2:g.49470406G>A	GRCh38
NC_000010.10:g.50678452G>A , CM000672.1:g.50678452G>A	GRCh37
NC_000010.9:g.50348458G>A	NCBI36
NG_009442.1:g.73696C>T , LRG_465:g.73696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3554C>T MANE Select	ENSP00000348089.5:p.Thr1185Ile
ENST00000679552.1:n.625C>T
ENST00000679871.1:n.700C>T
ENST00000679974.1:n.603C>T
ENST00000681632.1:n.4957C>T
ENST00000681659.1:c.3395C>T	ENSP00000505631.1:p.Thr1132Ile
ENST00000355832.9:c.3554C>T	ENSP00000348089.5:p.Thr1185Ile
ENST00000623073.3:c.*1850C>T	ENSP00000485650.1:n.*1850C>T
ENST00000623115.3:c.1664C>T	ENSP00000485321.1:p.Thr555Ile
ENST00000624341.3:c.1386C>T
NM_000124.3:c.3554C>T	NP_000115.1:p.Thr1185Ile
XR_945953.1:n.243-1159G>A
NM_001346440.1:c.3554C>T	NP_001333369.1:p.Thr1185Ile
NM_000124.4:c.3554C>T MANE Select	NP_000115.1:p.Thr1185Ile
NM_001346440.2:c.3554C>T	NP_001333369.1:p.Thr1185Ile