Canonical Allele Identifier: CA376716430

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470760-G-A
• MyVariant Identifiers: chr10:g.50678806G>A (hg19) ; chr10:g.49470760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470760G>A , CM000672.2:g.49470760G>A	GRCh38
NC_000010.10:g.50678806G>A , CM000672.1:g.50678806G>A	GRCh37
NC_000010.9:g.50348812G>A	NCBI36
NG_009442.1:g.73342C>T , LRG_465:g.73342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3200C>T MANE Select	ENSP00000348089.5:p.Thr1067Ile
ENST00000679552.1:n.271C>T
ENST00000679871.1:n.346C>T
ENST00000679974.1:n.249C>T
ENST00000681632.1:n.4603C>T
ENST00000681659.1:c.3041C>T	ENSP00000505631.1:p.Thr1014Ile
ENST00000355832.9:c.3200C>T	ENSP00000348089.5:p.Thr1067Ile
ENST00000623073.3:c.*1496C>T	ENSP00000485650.1:n.*1496C>T
ENST00000623115.3:c.1310C>T	ENSP00000485321.1:p.Thr437Ile
ENST00000624341.3:c.1032C>T
NM_000124.3:c.3200C>T	NP_000115.1:p.Thr1067Ile
XR_945953.1:n.243-805G>A
NM_001346440.1:c.3200C>T	NP_001333369.1:p.Thr1067Ile
NM_000124.4:c.3200C>T MANE Select	NP_000115.1:p.Thr1067Ile
NM_001346440.2:c.3200C>T	NP_001333369.1:p.Thr1067Ile