Canonical Allele Identifier: CA469604481

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493123-G-A
• MyVariant Identifiers: chr10:g.50701169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493123G>A , CM000672.2:g.49493123G>A	GRCh38
NC_000010.10:g.50701169G>A , CM000672.1:g.50701169G>A	GRCh37
NC_000010.9:g.50371175G>A	NCBI36
NG_009442.1:g.50979C>T , LRG_465:g.50979C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1815C>T MANE Select	ENSP00000348089.5:p.His605=
ENST00000681632.1:n.1893C>T
ENST00000681659.1:c.1656C>T	ENSP00000505631.1:p.His552=
ENST00000355832.9:c.1815C>T	ENSP00000348089.5:p.His605=
ENST00000475116.1:n.275+7415C>T
ENST00000623073.3:c.216C>T	ENSP00000485650.1:p.His72=
ENST00000623115.3:c.-70+7415C>T	ENSP00000485321.1:n.-70+7415C>T
ENST00000623318.1:c.216C>T	ENSP00000485423.1:p.His72=
NM_000124.3:c.1815C>T	NP_000115.1:p.His605=
NM_001346440.1:c.1815C>T	NP_001333369.1:p.His605=
NM_000124.4:c.1815C>T MANE Select	NP_000115.1:p.His605=
NM_001346440.2:c.1815C>T	NP_001333369.1:p.His605=