Canonical Allele Identifier: CA376717754

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679120T>G (hg19) ; chr10:g.49471074T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471074T>G , CM000672.2:g.49471074T>G	GRCh38
NC_000010.10:g.50679120T>G , CM000672.1:g.50679120T>G	GRCh37
NC_000010.9:g.50349126T>G	NCBI36
NG_009442.1:g.73028A>C , LRG_465:g.73028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2971A>C MANE Select	ENSP00000348089.5:p.Lys991Gln
ENST00000679552.1:n.142-185A>C
ENST00000679871.1:n.117A>C
ENST00000679974.1:n.120-185A>C
ENST00000681632.1:n.4374A>C
ENST00000681659.1:c.2812A>C	ENSP00000505631.1:p.Lys938Gln
ENST00000355832.9:c.2971A>C	ENSP00000348089.5:p.Lys991Gln
ENST00000623073.3:c.*1267A>C	ENSP00000485650.1:n.*1267A>C
ENST00000623115.3:c.1081A>C	ENSP00000485321.1:p.Lys361Gln
ENST00000624341.3:c.803A>C
NM_000124.3:c.2971A>C	NP_000115.1:p.Lys991Gln
XR_945953.1:n.243-491T>G
NM_001346440.1:c.2971A>C	NP_001333369.1:p.Lys991Gln
NM_000124.4:c.2971A>C MANE Select	NP_000115.1:p.Lys991Gln
NM_001346440.2:c.2971A>C	NP_001333369.1:p.Lys991Gln