Canonical Allele Identifier: CA376717555

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471035-G-C
• MyVariant Identifiers: chr10:g.50679081G>C (hg19) ; chr10:g.49471035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471035G>C , CM000672.2:g.49471035G>C	GRCh38
NC_000010.10:g.50679081G>C , CM000672.1:g.50679081G>C	GRCh37
NC_000010.9:g.50349087G>C	NCBI36
NG_009442.1:g.73067C>G , LRG_465:g.73067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3010C>G MANE Select	ENSP00000348089.5:p.Leu1004Val
ENST00000679552.1:n.142-146C>G
ENST00000679871.1:n.156C>G
ENST00000679974.1:n.120-146C>G
ENST00000681632.1:n.4413C>G
ENST00000681659.1:c.2851C>G	ENSP00000505631.1:p.Leu951Val
ENST00000355832.9:c.3010C>G	ENSP00000348089.5:p.Leu1004Val
ENST00000623073.3:c.*1306C>G	ENSP00000485650.1:n.*1306C>G
ENST00000623115.3:c.1120C>G	ENSP00000485321.1:p.Leu374Val
ENST00000624341.3:c.842C>G
NM_000124.3:c.3010C>G	NP_000115.1:p.Leu1004Val
XR_945953.1:n.243-530G>C
NM_001346440.1:c.3010C>G	NP_001333369.1:p.Leu1004Val
NM_000124.4:c.3010C>G MANE Select	NP_000115.1:p.Leu1004Val
NM_001346440.2:c.3010C>G	NP_001333369.1:p.Leu1004Val