Canonical Allele Identifier: CA376726608

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493218-G-C
• MyVariant Identifiers: chr10:g.50701264G>C (hg19) ; chr10:g.49493218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493218G>C , CM000672.2:g.49493218G>C	GRCh38
NC_000010.10:g.50701264G>C , CM000672.1:g.50701264G>C	GRCh37
NC_000010.9:g.50371270G>C	NCBI36
NG_009442.1:g.50884C>G , LRG_465:g.50884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1720C>G MANE Select	ENSP00000348089.5:p.Pro574Ala
ENST00000681632.1:n.1798C>G
ENST00000681659.1:c.1561C>G	ENSP00000505631.1:p.Pro521Ala
ENST00000355832.9:c.1720C>G	ENSP00000348089.5:p.Pro574Ala
ENST00000475116.1:n.275+7320C>G
ENST00000623073.3:c.121C>G	ENSP00000485650.1:p.Pro41Ala
ENST00000623115.3:c.-70+7320C>G	ENSP00000485321.1:n.-70+7320C>G
ENST00000623318.1:c.121C>G	ENSP00000485423.1:p.Pro41Ala
NM_000124.3:c.1720C>G	NP_000115.1:p.Pro574Ala
NM_001346440.1:c.1720C>G	NP_001333369.1:p.Pro574Ala
NM_000124.4:c.1720C>G MANE Select	NP_000115.1:p.Pro574Ala
NM_001346440.2:c.1720C>G	NP_001333369.1:p.Pro574Ala