Canonical Allele Identifier: CA469600317

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669466C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461420C>A , CM000672.2:g.49461420C>A	GRCh38
NC_000010.10:g.50669466C>A , CM000672.1:g.50669466C>A	GRCh37
NC_000010.9:g.50339472C>A	NCBI36
NG_009442.1:g.82682G>T , LRG_465:g.82682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3915G>T MANE Select	ENSP00000348089.5:p.Leu1305=
ENST00000679552.1:n.986G>T
ENST00000679871.1:n.1061G>T
ENST00000679974.1:n.964G>T
ENST00000681632.1:n.5318G>T
ENST00000681659.1:c.3756G>T	ENSP00000505631.1:p.Leu1252=
ENST00000355832.9:c.3915G>T	ENSP00000348089.5:p.Leu1305=
ENST00000465653.1:n.237G>T
ENST00000623073.3:c.*2211G>T	ENSP00000485650.1:n.*2211G>T
ENST00000623115.3:c.2025G>T	ENSP00000485321.1:p.Leu675=
ENST00000624341.3:c.1747G>T
NM_000124.3:c.3915G>T	NP_000115.1:p.Leu1305=
XR_945953.1:n.243-10145C>A
NM_001346440.1:c.3915G>T	NP_001333369.1:p.Leu1305=
NM_000124.4:c.3915G>T MANE Select	NP_000115.1:p.Leu1305=
NM_001346440.2:c.3915G>T	NP_001333369.1:p.Leu1305=