Canonical Allele Identifier: CA376717764

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679123G>C (hg19) ; chr10:g.49471077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471077G>C , CM000672.2:g.49471077G>C	GRCh38
NC_000010.10:g.50679123G>C , CM000672.1:g.50679123G>C	GRCh37
NC_000010.9:g.50349129G>C	NCBI36
NG_009442.1:g.73025C>G , LRG_465:g.73025C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2968C>G MANE Select	ENSP00000348089.5:p.Pro990Ala
ENST00000679552.1:n.142-188C>G
ENST00000679871.1:n.114C>G
ENST00000679974.1:n.120-188C>G
ENST00000681632.1:n.4371C>G
ENST00000681659.1:c.2809C>G	ENSP00000505631.1:p.Pro937Ala
ENST00000355832.9:c.2968C>G	ENSP00000348089.5:p.Pro990Ala
ENST00000623073.3:c.*1264C>G	ENSP00000485650.1:n.*1264C>G
ENST00000623115.3:c.1078C>G	ENSP00000485321.1:p.Pro360Ala
ENST00000624341.3:c.800C>G
NM_000124.3:c.2968C>G	NP_000115.1:p.Pro990Ala
XR_945953.1:n.243-488G>C
NM_001346440.1:c.2968C>G	NP_001333369.1:p.Pro990Ala
NM_000124.4:c.2968C>G MANE Select	NP_000115.1:p.Pro990Ala
NM_001346440.2:c.2968C>G	NP_001333369.1:p.Pro990Ala