Canonical Allele Identifier: CA5495274

Gene: ERCC6

Linked Data

• dbSNP Id: rs375044889
• ExAC: 10:50678200 C / G
• gnomAD v2: 10-50678200-C-G
• gnomAD v3: 10-49470154-C-G
• gnomAD v4: 10-49470154-C-G
• MyVariant Identifiers: chr10:g.50678200C>G (hg19) ; chr10:g.49470154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470154C>G , CM000672.2:g.49470154C>G	GRCh38
NC_000010.10:g.50678200C>G , CM000672.1:g.50678200C>G	GRCh37
NC_000010.9:g.50348206C>G	NCBI36
NG_009442.1:g.73948G>C , LRG_465:g.73948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+28G>C MANE Select	ENSP00000348089.5:n.3778+28G>C
ENST00000679552.1:n.849+28G>C
ENST00000679871.1:n.924+28G>C
ENST00000679974.1:n.827+28G>C
ENST00000681632.1:n.5181+28G>C
ENST00000681659.1:c.3619+28G>C	ENSP00000505631.1:n.3619+28G>C
ENST00000355832.9:c.3778+28G>C	ENSP00000348089.5:n.3778+28G>C
ENST00000465653.1:n.100+28G>C
ENST00000623073.3:c.*2074+28G>C	ENSP00000485650.1:n.*2074+28G>C
ENST00000623115.3:c.1888+28G>C	ENSP00000485321.1:n.1888+28G>C
ENST00000624341.3:c.1610+28G>C
NM_000124.3:c.3778+28G>C	NP_000115.1:n.3778+28G>C
XR_945953.1:n.243-1411C>G
NM_001346440.1:c.3778+28G>C	NP_001333369.1:n.3778+28G>C
NM_000124.4:c.3778+28G>C MANE Select	NP_000115.1:n.3778+28G>C
NM_001346440.2:c.3778+28G>C	NP_001333369.1:n.3778+28G>C