Canonical Allele Identifier: CA376713446

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678402G>T (hg19) ; chr10:g.49470356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470356G>T , CM000672.2:g.49470356G>T	GRCh38
NC_000010.10:g.50678402G>T , CM000672.1:g.50678402G>T	GRCh37
NC_000010.9:g.50348408G>T	NCBI36
NG_009442.1:g.73746C>A , LRG_465:g.73746C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3604C>A MANE Select	ENSP00000348089.5:p.Pro1202Thr
ENST00000679552.1:n.675C>A
ENST00000679871.1:n.750C>A
ENST00000679974.1:n.653C>A
ENST00000681632.1:n.5007C>A
ENST00000681659.1:c.3445C>A	ENSP00000505631.1:p.Pro1149Thr
ENST00000355832.9:c.3604C>A	ENSP00000348089.5:p.Pro1202Thr
ENST00000623073.3:c.*1900C>A	ENSP00000485650.1:n.*1900C>A
ENST00000623115.3:c.1714C>A	ENSP00000485321.1:p.Pro572Thr
ENST00000624341.3:c.1436C>A
NM_000124.3:c.3604C>A	NP_000115.1:p.Pro1202Thr
XR_945953.1:n.243-1209G>T
NM_001346440.1:c.3604C>A	NP_001333369.1:p.Pro1202Thr
NM_000124.4:c.3604C>A MANE Select	NP_000115.1:p.Pro1202Thr
NM_001346440.2:c.3604C>A	NP_001333369.1:p.Pro1202Thr