Canonical Allele Identifier: CA376714944

Gene: ERCC6

Linked Data

• dbSNP Id: rs1185503704
• gnomAD v2: 10-50678581-G-A
• gnomAD v4: 10-49470535-G-A
• MyVariant Identifiers: chr10:g.50678581G>A (hg19) ; chr10:g.49470535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470535G>A , CM000672.2:g.49470535G>A	GRCh38
NC_000010.10:g.50678581G>A , CM000672.1:g.50678581G>A	GRCh37
NC_000010.9:g.50348587G>A	NCBI36
NG_009442.1:g.73567C>T , LRG_465:g.73567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3425C>T MANE Select	ENSP00000348089.5:p.Ser1142Phe
ENST00000679552.1:n.496C>T
ENST00000679871.1:n.571C>T
ENST00000679974.1:n.474C>T
ENST00000681632.1:n.4828C>T
ENST00000681659.1:c.3266C>T	ENSP00000505631.1:p.Ser1089Phe
ENST00000355832.9:c.3425C>T	ENSP00000348089.5:p.Ser1142Phe
ENST00000623073.3:c.*1721C>T	ENSP00000485650.1:n.*1721C>T
ENST00000623115.3:c.1535C>T	ENSP00000485321.1:p.Ser512Phe
ENST00000624341.3:c.1257C>T
NM_000124.3:c.3425C>T	NP_000115.1:p.Ser1142Phe
XR_945953.1:n.243-1030G>A
NM_001346440.1:c.3425C>T	NP_001333369.1:p.Ser1142Phe
NM_000124.4:c.3425C>T MANE Select	NP_000115.1:p.Ser1142Phe
NM_001346440.2:c.3425C>T	NP_001333369.1:p.Ser1142Phe