Canonical Allele Identifier: CA376718378

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680432T>G (hg19) ; chr10:g.49472386T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472386T>G , CM000672.2:g.49472386T>G	GRCh38
NC_000010.10:g.50680432T>G , CM000672.1:g.50680432T>G	GRCh37
NC_000010.9:g.50350438T>G	NCBI36
NG_009442.1:g.71716A>C , LRG_465:g.71716A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2914A>C MANE Select	ENSP00000348089.5:p.Ile972Leu
ENST00000681632.1:n.4317A>C
ENST00000681659.1:c.2755A>C	ENSP00000505631.1:p.Ile919Leu
ENST00000355832.9:c.2914A>C	ENSP00000348089.5:p.Ile972Leu
ENST00000623073.3:c.*1210A>C	ENSP00000485650.1:n.*1210A>C
ENST00000623115.3:c.1024A>C	ENSP00000485321.1:p.Ile342Leu
ENST00000624341.3:c.746A>C
NM_000124.3:c.2914A>C	NP_000115.1:p.Ile972Leu
XR_945953.1:n.690-317T>G
NM_001346440.1:c.2914A>C	NP_001333369.1:p.Ile972Leu
NM_000124.4:c.2914A>C MANE Select	NP_000115.1:p.Ile972Leu
NM_001346440.2:c.2914A>C	NP_001333369.1:p.Ile972Leu