Canonical Allele Identifier: CA376716372

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678795C>G (hg19) ; chr10:g.49470749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470749C>G , CM000672.2:g.49470749C>G	GRCh38
NC_000010.10:g.50678795C>G , CM000672.1:g.50678795C>G	GRCh37
NC_000010.9:g.50348801C>G	NCBI36
NG_009442.1:g.73353G>C , LRG_465:g.73353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3211G>C MANE Select	ENSP00000348089.5:p.Glu1071Gln
ENST00000679552.1:n.282G>C
ENST00000679871.1:n.357G>C
ENST00000679974.1:n.260G>C
ENST00000681632.1:n.4614G>C
ENST00000681659.1:c.3052G>C	ENSP00000505631.1:p.Glu1018Gln
ENST00000355832.9:c.3211G>C	ENSP00000348089.5:p.Glu1071Gln
ENST00000623073.3:c.*1507G>C	ENSP00000485650.1:n.*1507G>C
ENST00000623115.3:c.1321G>C	ENSP00000485321.1:p.Glu441Gln
ENST00000624341.3:c.1043G>C
NM_000124.3:c.3211G>C	NP_000115.1:p.Glu1071Gln
XR_945953.1:n.243-816C>G
NM_001346440.1:c.3211G>C	NP_001333369.1:p.Glu1071Gln
NM_000124.4:c.3211G>C MANE Select	NP_000115.1:p.Glu1071Gln
NM_001346440.2:c.3211G>C	NP_001333369.1:p.Glu1071Gln