Canonical Allele Identifier: CA928206436

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850584184
• gnomAD v3: 10-49461561-C-G
• gnomAD v4: 10-49461561-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461561C>G , CM000672.2:g.49461561C>G	GRCh38
NC_000010.10:g.50669607C>G , CM000672.1:g.50669607C>G	GRCh37
NC_000010.9:g.50339613C>G	NCBI36
NG_009442.1:g.82541G>C , LRG_465:g.82541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3779-5G>C MANE Select	ENSP00000348089.5:n.3779-5G>C
ENST00000679552.1:n.850-5G>C
ENST00000679871.1:n.925-5G>C
ENST00000679974.1:n.828-5G>C
ENST00000681632.1:n.5182-5G>C
ENST00000681659.1:c.3620-5G>C	ENSP00000505631.1:n.3620-5G>C
ENST00000355832.9:c.3779-5G>C	ENSP00000348089.5:n.3779-5G>C
ENST00000465653.1:n.101-5G>C
ENST00000623073.3:c.*2075-5G>C	ENSP00000485650.1:n.*2075-5G>C
ENST00000623115.3:c.1889-5G>C	ENSP00000485321.1:n.1889-5G>C
ENST00000624341.3:c.1611-5G>C
NM_000124.3:c.3779-5G>C	NP_000115.1:n.3779-5G>C
XR_945953.1:n.243-10004C>G
NM_001346440.1:c.3779-5G>C	NP_001333369.1:n.3779-5G>C
NM_000124.4:c.3779-5G>C MANE Select	NP_000115.1:n.3779-5G>C
NM_001346440.2:c.3779-5G>C	NP_001333369.1:n.3779-5G>C