Canonical Allele Identifier: CA376718353

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680427G>C (hg19) ; chr10:g.49472381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472381G>C , CM000672.2:g.49472381G>C	GRCh38
NC_000010.10:g.50680427G>C , CM000672.1:g.50680427G>C	GRCh37
NC_000010.9:g.50350433G>C	NCBI36
NG_009442.1:g.71721C>G , LRG_465:g.71721C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2919C>G MANE Select	ENSP00000348089.5:p.Tyr973Ter
ENST00000681632.1:n.4322C>G
ENST00000681659.1:c.2760C>G	ENSP00000505631.1:p.Tyr920Ter
ENST00000355832.9:c.2919C>G	ENSP00000348089.5:p.Tyr973Ter
ENST00000623073.3:c.*1215C>G	ENSP00000485650.1:n.*1215C>G
ENST00000623115.3:c.1029C>G	ENSP00000485321.1:p.Tyr343Ter
ENST00000624341.3:c.751C>G
NM_000124.3:c.2919C>G	NP_000115.1:p.Tyr973Ter
XR_945953.1:n.690-322G>C
NM_001346440.1:c.2919C>G	NP_001333369.1:p.Tyr973Ter
NM_000124.4:c.2919C>G MANE Select	NP_000115.1:p.Tyr973Ter
NM_001346440.2:c.2919C>G	NP_001333369.1:p.Tyr973Ter