Canonical Allele Identifier: CA376713975

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678467T>A (hg19) ; chr10:g.49470421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470421T>A , CM000672.2:g.49470421T>A	GRCh38
NC_000010.10:g.50678467T>A , CM000672.1:g.50678467T>A	GRCh37
NC_000010.9:g.50348473T>A	NCBI36
NG_009442.1:g.73681A>T , LRG_465:g.73681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3539A>T MANE Select	ENSP00000348089.5:p.Lys1180Met
ENST00000679552.1:n.610A>T
ENST00000679871.1:n.685A>T
ENST00000679974.1:n.588A>T
ENST00000681632.1:n.4942A>T
ENST00000681659.1:c.3380A>T	ENSP00000505631.1:p.Lys1127Met
ENST00000355832.9:c.3539A>T	ENSP00000348089.5:p.Lys1180Met
ENST00000623073.3:c.*1835A>T	ENSP00000485650.1:n.*1835A>T
ENST00000623115.3:c.1649A>T	ENSP00000485321.1:p.Lys550Met
ENST00000624341.3:c.1371A>T
NM_000124.3:c.3539A>T	NP_000115.1:p.Lys1180Met
XR_945953.1:n.243-1144T>A
NM_001346440.1:c.3539A>T	NP_001333369.1:p.Lys1180Met
NM_000124.4:c.3539A>T MANE Select	NP_000115.1:p.Lys1180Met
NM_001346440.2:c.3539A>T	NP_001333369.1:p.Lys1180Met