Canonical Allele Identifier: CA376713443
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1369968395

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470356G>A , CM000672.2:g.49470356G>A GRCh38
NC_000010.10:g.50678402G>A , CM000672.1:g.50678402G>A GRCh37
NC_000010.9:g.50348408G>A NCBI36
NG_009442.1:g.73746C>T , LRG_465:g.73746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3604C>T MANE Select ENSP00000348089.5:p.Pro1202Ser
ENST00000679552.1:n.675C>T
ENST00000679871.1:n.750C>T
ENST00000679974.1:n.653C>T
ENST00000681632.1:n.5007C>T
ENST00000681659.1:c.3445C>T ENSP00000505631.1:p.Pro1149Ser
ENST00000355832.9:c.3604C>T ENSP00000348089.5:p.Pro1202Ser
ENST00000623073.3:c.*1900C>T ENSP00000485650.1:n.*1900C>T
ENST00000623115.3:c.1714C>T ENSP00000485321.1:p.Pro572Ser
ENST00000624341.3:c.1436C>T
NM_000124.3:c.3604C>T NP_000115.1:p.Pro1202Ser
XR_945953.1:n.243-1209G>A
NM_001346440.1:c.3604C>T NP_001333369.1:p.Pro1202Ser
NM_000124.4:c.3604C>T MANE Select NP_000115.1:p.Pro1202Ser
NM_001346440.2:c.3604C>T NP_001333369.1:p.Pro1202Ser