Canonical Allele Identifier: CA2609133452

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470121-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470121G>C , CM000672.2:g.49470121G>C	GRCh38
NC_000010.10:g.50678167G>C , CM000672.1:g.50678167G>C	GRCh37
NC_000010.9:g.50348173G>C	NCBI36
NG_009442.1:g.73981C>G , LRG_465:g.73981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+61C>G MANE Select	ENSP00000348089.5:n.3778+61C>G
ENST00000679552.1:n.849+61C>G
ENST00000679871.1:n.924+61C>G
ENST00000679974.1:n.827+61C>G
ENST00000681632.1:n.5181+61C>G
ENST00000681659.1:c.3619+61C>G	ENSP00000505631.1:n.3619+61C>G
ENST00000355832.9:c.3778+61C>G	ENSP00000348089.5:n.3778+61C>G
ENST00000465653.1:n.100+61C>G
ENST00000623073.3:c.*2074+61C>G	ENSP00000485650.1:n.*2074+61C>G
ENST00000623115.3:c.1888+61C>G	ENSP00000485321.1:n.1888+61C>G
ENST00000624341.3:c.1610+61C>G
NM_000124.3:c.3778+61C>G	NP_000115.1:n.3778+61C>G
XR_945953.1:n.243-1444G>C
NM_001346440.1:c.3778+61C>G	NP_001333369.1:n.3778+61C>G
NM_000124.4:c.3778+61C>G MANE Select	NP_000115.1:n.3778+61C>G
NM_001346440.2:c.3778+61C>G	NP_001333369.1:n.3778+61C>G