Canonical Allele Identifier: CA376704210

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49459134-G-A
• MyVariant Identifiers: chr10:g.50667180G>A (hg19) ; chr10:g.49459134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459134G>A , CM000672.2:g.49459134G>A	GRCh38
NC_000010.10:g.50667180G>A , CM000672.1:g.50667180G>A	GRCh37
NC_000010.9:g.50337186G>A	NCBI36
NG_009442.1:g.84968C>T , LRG_465:g.84968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4163C>T MANE Select	ENSP00000348089.5:p.Ser1388Leu
ENST00000679552.1:n.2372C>T
ENST00000679871.1:n.1309C>T
ENST00000679974.1:n.1212C>T
ENST00000681632.1:n.5566C>T
ENST00000681659.1:c.4004C>T	ENSP00000505631.1:p.Ser1335Leu
ENST00000355832.9:c.4163C>T	ENSP00000348089.5:p.Ser1388Leu
ENST00000623073.3:c.*2459C>T	ENSP00000485650.1:n.*2459C>T
ENST00000623115.3:c.2273C>T	ENSP00000485321.1:p.Ser758Leu
ENST00000624341.3:c.1995C>T
NM_000124.3:c.4163C>T	NP_000115.1:p.Ser1388Leu
XR_945953.1:n.243-12431G>A
NM_001346440.1:c.4163C>T	NP_001333369.1:p.Ser1388Leu
NM_000124.4:c.4163C>T MANE Select	NP_000115.1:p.Ser1388Leu
NM_001346440.2:c.4163C>T	NP_001333369.1:p.Ser1388Leu