Canonical Allele Identifier: CA376717036

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678899A>C (hg19) ; chr10:g.49470853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470853A>C , CM000672.2:g.49470853A>C	GRCh38
NC_000010.10:g.50678899A>C , CM000672.1:g.50678899A>C	GRCh37
NC_000010.9:g.50348905A>C	NCBI36
NG_009442.1:g.73249T>G , LRG_465:g.73249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3107T>G MANE Select	ENSP00000348089.5:p.Leu1036Arg
ENST00000679552.1:n.178T>G
ENST00000679871.1:n.253T>G
ENST00000679974.1:n.156T>G
ENST00000681632.1:n.4510T>G
ENST00000681659.1:c.2948T>G	ENSP00000505631.1:p.Leu983Arg
ENST00000355832.9:c.3107T>G	ENSP00000348089.5:p.Leu1036Arg
ENST00000623073.3:c.*1403T>G	ENSP00000485650.1:n.*1403T>G
ENST00000623115.3:c.1217T>G	ENSP00000485321.1:p.Leu406Arg
ENST00000624341.3:c.939T>G
NM_000124.3:c.3107T>G	NP_000115.1:p.Leu1036Arg
XR_945953.1:n.243-712A>C
NM_001346440.1:c.3107T>G	NP_001333369.1:p.Leu1036Arg
NM_000124.4:c.3107T>G MANE Select	NP_000115.1:p.Leu1036Arg
NM_001346440.2:c.3107T>G	NP_001333369.1:p.Leu1036Arg