Canonical Allele Identifier: CA469604723

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708724A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500678A>G , CM000672.2:g.49500678A>G	GRCh38
NC_000010.10:g.50708724A>G , CM000672.1:g.50708724A>G	GRCh37
NC_000010.9:g.50378730A>G	NCBI36
NG_009442.1:g.43424T>C , LRG_465:g.43424T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1545T>C MANE Select	ENSP00000348089.5:p.Val515=
ENST00000681632.1:n.1623T>C
ENST00000681659.1:c.1526+5206T>C	ENSP00000505631.1:n.1526+5206T>C
ENST00000355832.9:c.1545T>C	ENSP00000348089.5:p.Val515=
ENST00000475116.1:n.135T>C
ENST00000623073.3:c.-55T>C	ENSP00000485650.1:n.-55T>C
ENST00000623115.3:c.-210T>C	ENSP00000485321.1:n.-210T>C
ENST00000623318.1:c.-55T>C	ENSP00000485423.1:n.-55T>C
ENST00000623788.1:n.544T>C
NM_000124.3:c.1545T>C	NP_000115.1:p.Val515=
NM_001346440.1:c.1545T>C	NP_001333369.1:p.Val515=
NM_000124.4:c.1545T>C MANE Select	NP_000115.1:p.Val515=
NM_001346440.2:c.1545T>C	NP_001333369.1:p.Val515=