Canonical Allele Identifier: CA2609136056

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49500495-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500495T>G , CM000672.2:g.49500495T>G	GRCh38
NC_000010.10:g.50708541T>G , CM000672.1:g.50708541T>G	GRCh37
NC_000010.9:g.50378547T>G	NCBI36
NG_009442.1:g.43607A>C , LRG_465:g.43607A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+43A>C MANE Select	ENSP00000348089.5:n.1685+43A>C
ENST00000681632.1:n.1763+43A>C
ENST00000681659.1:c.1526+5389A>C	ENSP00000505631.1:n.1526+5389A>C
ENST00000355832.9:c.1685+43A>C	ENSP00000348089.5:n.1685+43A>C
ENST00000475116.1:n.275+43A>C
ENST00000623073.3:c.86+43A>C	ENSP00000485650.1:n.86+43A>C
ENST00000623115.3:c.-70+43A>C	ENSP00000485321.1:n.-70+43A>C
ENST00000623318.1:c.86+43A>C	ENSP00000485423.1:n.86+43A>C
NM_000124.3:c.1685+43A>C	NP_000115.1:n.1685+43A>C
NM_001346440.1:c.1685+43A>C	NP_001333369.1:n.1685+43A>C
NM_000124.4:c.1685+43A>C MANE Select	NP_000115.1:n.1685+43A>C
NM_001346440.2:c.1685+43A>C	NP_001333369.1:n.1685+43A>C