Canonical Allele Identifier: CA519282313
Gene: DNASE1L1 HGNC NCBI
RPL10 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153633386C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154405045C>A , CM000685.2:g.154405045C>A GRCh38
NC_000023.10:g.153633386C>A , CM000685.1:g.153633386C>A GRCh37
NC_000023.9:g.153286580C>A NCBI36
NG_012884.2:g.12044G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369807.6:c.174G>T (DNASE1L1) MANE Select ENSP00000358822.1:p.Val58=
ENST00000014935.7:c.174G>T (DNASE1L1) ENSP00000014935.3:p.Val58=
ENST00000309585.9:c.174G>T (DNASE1L1) ENSP00000309168.5:p.Val58=
ENST00000369807.5:c.174G>T (DNASE1L1) ENSP00000358822.1:p.Val58=
ENST00000369808.7:c.174G>T (DNASE1L1) ENSP00000358823.3:p.Val58=
ENST00000369809.5:c.174G>T (DNASE1L1) ENSP00000358824.1:p.Val58=
ENST00000393638.5:c.174G>T (DNASE1L1) ENSP00000377255.1:p.Val58=
ENST00000412184.1:c.135+389G>T (DNASE1L1) ENSP00000416881.1:n.135+389G>T
ENST00000424626.5:c.174G>T (DNASE1L1) ENSP00000393000.1:p.Val58=
ENST00000428169.1:c.223-4054C>A (RPL10) ENSP00000398047.1:n.223-4054C>A
ENST00000447892.1:c.135+389G>T (DNASE1L1) ENSP00000395591.1:n.135+389G>T
ENST00000451865.5:c.174G>T (DNASE1L1) ENSP00000393346.1:p.Val58=
NM_001009932.2:c.174G>T (DNASE1L1) NP_001009932.1:p.Val58=
NM_001009933.2:c.174G>T (DNASE1L1) NP_001009933.1:p.Val58=
NM_001009934.2:c.174G>T (DNASE1L1) NP_001009934.1:p.Val58=
NM_001303620.1:c.174G>T (DNASE1L1) NP_001290549.1:p.Val58=
NM_006730.3:c.174G>T (DNASE1L1) NP_006721.1:p.Val58=
XM_005277829.3:c.174G>T (DNASE1L1) XP_005277886.1:p.Val58=
XM_011531121.1:c.174G>T (DNASE1L1) XP_011529423.1:p.Val58=
XM_011531122.1:c.174G>T (DNASE1L1) XP_011529424.1:p.Val58=
XR_938506.1:n.928G>T (DNASE1L1)
XM_005277829.4:c.174G>T (DNASE1L1) XP_005277886.1:p.Val58=
XM_011531122.2:c.174G>T (DNASE1L1) XP_011529424.1:p.Val58=
XM_017029332.1:c.174G>T (DNASE1L1) XP_016884821.1:p.Val58=
NM_001303620.2:c.174G>T (DNASE1L1) MANE Select NP_001290549.1:p.Val58=
NM_001009933.3:c.174G>T (DNASE1L1) NP_001009933.1:p.Val58=
NM_006730.4:c.174G>T (DNASE1L1) NP_006721.1:p.Val58=
NM_001009932.3:c.174G>T (DNASE1L1) NP_001009932.1:p.Val58=
NM_001009934.3:c.174G>T (DNASE1L1) NP_001009934.1:p.Val58=