Canonical Allele Identifier: CA376714367

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678516G>A (hg19) ; chr10:g.49470470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470470G>A , CM000672.2:g.49470470G>A	GRCh38
NC_000010.10:g.50678516G>A , CM000672.1:g.50678516G>A	GRCh37
NC_000010.9:g.50348522G>A	NCBI36
NG_009442.1:g.73632C>T , LRG_465:g.73632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3490C>T MANE Select	ENSP00000348089.5:p.Gln1164Ter
ENST00000679552.1:n.561C>T
ENST00000679871.1:n.636C>T
ENST00000679974.1:n.539C>T
ENST00000681632.1:n.4893C>T
ENST00000681659.1:c.3331C>T	ENSP00000505631.1:p.Gln1111Ter
ENST00000355832.9:c.3490C>T	ENSP00000348089.5:p.Gln1164Ter
ENST00000623073.3:c.*1786C>T	ENSP00000485650.1:n.*1786C>T
ENST00000623115.3:c.1600C>T	ENSP00000485321.1:p.Gln534Ter
ENST00000624341.3:c.1322C>T
NM_000124.3:c.3490C>T	NP_000115.1:p.Gln1164Ter
XR_945953.1:n.243-1095G>A
NM_001346440.1:c.3490C>T	NP_001333369.1:p.Gln1164Ter
NM_000124.4:c.3490C>T MANE Select	NP_000115.1:p.Gln1164Ter
NM_001346440.2:c.3490C>T	NP_001333369.1:p.Gln1164Ter