Canonical Allele Identifier: CA376708237

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461373-G-A
• MyVariant Identifiers: chr10:g.50669419G>A (hg19) ; chr10:g.49461373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461373G>A , CM000672.2:g.49461373G>A	GRCh38
NC_000010.10:g.50669419G>A , CM000672.1:g.50669419G>A	GRCh37
NC_000010.9:g.50339425G>A	NCBI36
NG_009442.1:g.82729C>T , LRG_465:g.82729C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3962C>T MANE Select	ENSP00000348089.5:p.Ser1321Phe
ENST00000679552.1:n.1033C>T
ENST00000679871.1:n.1108C>T
ENST00000679974.1:n.1011C>T
ENST00000681632.1:n.5365C>T
ENST00000681659.1:c.3803C>T	ENSP00000505631.1:p.Ser1268Phe
ENST00000355832.9:c.3962C>T	ENSP00000348089.5:p.Ser1321Phe
ENST00000465653.1:n.284C>T
ENST00000623073.3:c.*2258C>T	ENSP00000485650.1:n.*2258C>T
ENST00000623115.3:c.2072C>T	ENSP00000485321.1:p.Ser691Phe
ENST00000624341.3:c.1794C>T
NM_000124.3:c.3962C>T	NP_000115.1:p.Ser1321Phe
XR_945953.1:n.243-10192G>A
NM_001346440.1:c.3962C>T	NP_001333369.1:p.Ser1321Phe
NM_000124.4:c.3962C>T MANE Select	NP_000115.1:p.Ser1321Phe
NM_001346440.2:c.3962C>T	NP_001333369.1:p.Ser1321Phe