Canonical Allele Identifier: CA10901392
Gene: NASP HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45618711G>T
GRCh37 chr1:g.46084383G>T
gnomAD v2:
1:46084383 G / T
gnomAD v3:
1:45618711 G / T
gnomAD v4:
chr1-45618711-G-T
Joint Max Group AF 0.22930184 (NFE)
Genomes Max Group AF 0.22907987 (NFE)
Exomes Max Group AF 0.22165851 (NFE)
dbSNP:
1053941
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45618711G>T , CM000663.2:g.45618711G>T GRCh38
NC_000001.10:g.46084383G>T , CM000663.1:g.46084383G>T GRCh37
NC_000001.9:g.45856970G>T NCBI36
NG_029224.1:g.39724G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350030.8:c.*570G>T MANE Select ENSP00000255120.5:n.*570G>T
ENST00000350030.7:c.*570G>T ENSP00000255120.5:n.*570G>T
ENST00000537798.5:c.*570G>T ENSP00000438871.1:n.*570G>T
NM_001195193.1:c.*570G>T NP_001182122.1:n.*570G>T
NM_002482.3:c.*570G>T NP_002473.2:n.*570G>T
NM_152298.3:c.*570G>T NP_689511.2:n.*570G>T
XM_005270888.2:c.*570G>T XP_005270945.1:n.*570G>T
XM_005270889.2:c.*570G>T XP_005270946.1:n.*570G>T
XM_011541509.1:c.*570G>T XP_011539811.1:n.*570G>T
XM_005270888.3:c.*570G>T XP_005270945.1:n.*570G>T
XM_005270889.3:c.*570G>T XP_005270946.1:n.*570G>T
XM_011541509.2:c.*570G>T XP_011539811.1:n.*570G>T
XM_017001356.2:c.*570G>T XP_016856845.1:n.*570G>T
NM_002482.4:c.*570G>T MANE Select NP_002473.2:n.*570G>T
NM_152298.4:c.*570G>T NP_689511.2:n.*570G>T
NM_001195193.2:c.*570G>T NP_001182122.1:n.*570G>T
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