Canonical Allele Identifier: CA2609139677

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49530712-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530712T>G , CM000672.2:g.49530712T>G	GRCh38
NC_000010.10:g.50738758T>G , CM000672.1:g.50738758T>G	GRCh37
NC_000010.9:g.50408764T>G	NCBI36
NG_009442.1:g.13390A>C , LRG_465:g.13390A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.543+8A>C MANE Select	ENSP00000348089.5:n.543+8A>C
ENST00000447839.7:c.543+8A>C MANE Plus Clinical	ENSP00000387966.2:n.543+8A>C
ENST00000679596.1:c.*172+1831A>C	ENSP00000504862.1:n.*172+1831A>C
ENST00000679811.1:n.626+8A>C
ENST00000680107.1:c.543+8A>C	ENSP00000505909.1:n.543+8A>C
ENST00000680233.1:n.636+8A>C
ENST00000681632.1:n.621+8A>C
ENST00000681659.1:c.543+8A>C	ENSP00000505631.1:n.543+8A>C
ENST00000355832.9:c.543+8A>C	ENSP00000348089.5:n.543+8A>C
ENST00000447839.6:c.543+8A>C	ENSP00000387966.2:n.543+8A>C
ENST00000479652.1:n.18+8A>C
ENST00000515869.1:c.543+8A>C	ENSP00000423550.1:n.543+8A>C
NM_000124.3:c.543+8A>C	NP_000115.1:n.543+8A>C
NM_001277058.1:c.543+8A>C	NP_001263987.1:n.543+8A>C
NM_001277059.1:c.543+8A>C	NP_001263988.1:n.543+8A>C
NM_001346440.1:c.543+8A>C	NP_001333369.1:n.543+8A>C
NM_000124.4:c.543+8A>C MANE Select	NP_000115.1:n.543+8A>C
NM_001277058.2:c.543+8A>C MANE Plus Clinical	NP_001263987.1:n.543+8A>C
NM_001277059.2:c.543+8A>C	NP_001263988.1:n.543+8A>C
NM_001346440.2:c.543+8A>C	NP_001333369.1:n.543+8A>C