Canonical Allele Identifier: CA2609134547

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49459257-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459257C>G , CM000672.2:g.49459257C>G	GRCh38
NC_000010.10:g.50667303C>G , CM000672.1:g.50667303C>G	GRCh37
NC_000010.9:g.50337309C>G	NCBI36
NG_009442.1:g.84845G>C , LRG_465:g.84845G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-23G>C MANE Select	ENSP00000348089.5:n.4063-23G>C
ENST00000679552.1:n.2249G>C
ENST00000679871.1:n.1209-23G>C
ENST00000679974.1:n.1112-23G>C
ENST00000681632.1:n.5466-23G>C
ENST00000681659.1:c.3904-23G>C	ENSP00000505631.1:n.3904-23G>C
ENST00000355832.9:c.4063-23G>C	ENSP00000348089.5:n.4063-23G>C
ENST00000623073.3:c.*2359-23G>C	ENSP00000485650.1:n.*2359-23G>C
ENST00000623115.3:c.2173-23G>C	ENSP00000485321.1:n.2173-23G>C
ENST00000624341.3:c.1895-23G>C
NM_000124.3:c.4063-23G>C	NP_000115.1:n.4063-23G>C
XR_945953.1:n.243-12308C>G
NM_001346440.1:c.4063-23G>C	NP_001333369.1:n.4063-23G>C
NM_000124.4:c.4063-23G>C MANE Select	NP_000115.1:n.4063-23G>C
NM_001346440.2:c.4063-23G>C	NP_001333369.1:n.4063-23G>C