Canonical Allele Identifier: CA415264467

Gene: DNASE1L1 RPL10

Linked Data

• dbSNP Id: rs1236324527
• gnomAD v3: X-154405061-A-G
• gnomAD v4: X-154405061-A-G
• MyVariant Identifiers: chrX:g.153633402A>G (hg19) ; chrX:g.154405061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154405061A>G , CM000685.2:g.154405061A>G	GRCh38
NC_000023.10:g.153633402A>G , CM000685.1:g.153633402A>G	GRCh37
NC_000023.9:g.153286596A>G	NCBI36
NG_012884.2:g.12028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369807.6:c.158T>C (DNASE1L1) MANE Select	ENSP00000358822.1:p.Met53Thr
ENST00000014935.7:c.158T>C (DNASE1L1)	ENSP00000014935.3:p.Met53Thr
ENST00000309585.9:c.158T>C (DNASE1L1)	ENSP00000309168.5:p.Met53Thr
ENST00000369807.5:c.158T>C (DNASE1L1)	ENSP00000358822.1:p.Met53Thr
ENST00000369808.7:c.158T>C (DNASE1L1)	ENSP00000358823.3:p.Met53Thr
ENST00000369809.5:c.158T>C (DNASE1L1)	ENSP00000358824.1:p.Met53Thr
ENST00000393638.5:c.158T>C (DNASE1L1)	ENSP00000377255.1:p.Met53Thr
ENST00000412184.1:c.135+373T>C (DNASE1L1)	ENSP00000416881.1:n.135+373T>C
ENST00000424626.5:c.158T>C (DNASE1L1)	ENSP00000393000.1:p.Met53Thr
ENST00000428169.1:c.223-4038A>G (RPL10)	ENSP00000398047.1:n.223-4038A>G
ENST00000447892.1:c.135+373T>C (DNASE1L1)	ENSP00000395591.1:n.135+373T>C
ENST00000451865.5:c.158T>C (DNASE1L1)	ENSP00000393346.1:p.Met53Thr
NM_001009932.2:c.158T>C (DNASE1L1)	NP_001009932.1:p.Met53Thr
NM_001009933.2:c.158T>C (DNASE1L1)	NP_001009933.1:p.Met53Thr
NM_001009934.2:c.158T>C (DNASE1L1)	NP_001009934.1:p.Met53Thr
NM_001303620.1:c.158T>C (DNASE1L1)	NP_001290549.1:p.Met53Thr
NM_006730.3:c.158T>C (DNASE1L1)	NP_006721.1:p.Met53Thr
XM_005277829.3:c.158T>C (DNASE1L1)	XP_005277886.1:p.Met53Thr
XM_011531121.1:c.158T>C (DNASE1L1)	XP_011529423.1:p.Met53Thr
XM_011531122.1:c.158T>C (DNASE1L1)	XP_011529424.1:p.Met53Thr
XR_938506.1:n.912T>C (DNASE1L1)
XM_005277829.4:c.158T>C (DNASE1L1)	XP_005277886.1:p.Met53Thr
XM_011531122.2:c.158T>C (DNASE1L1)	XP_011529424.1:p.Met53Thr
XM_017029332.1:c.158T>C (DNASE1L1)	XP_016884821.1:p.Met53Thr
NM_001303620.2:c.158T>C (DNASE1L1) MANE Select	NP_001290549.1:p.Met53Thr
NM_001009933.3:c.158T>C (DNASE1L1)	NP_001009933.1:p.Met53Thr
NM_006730.4:c.158T>C (DNASE1L1)	NP_006721.1:p.Met53Thr
NM_001009932.3:c.158T>C (DNASE1L1)	NP_001009932.1:p.Met53Thr
NM_001009934.3:c.158T>C (DNASE1L1)	NP_001009934.1:p.Met53Thr