Canonical Allele Identifier: CA641904881
Gene: NDP HGNC NCBI

Linked Data

dbSNP Id: rs1444927143
gnomAD v2: X-43808932-G-T
gnomAD v3: X-43949686-G-T
gnomAD v4: X-43949686-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949686G>T , CM000685.2:g.43949686G>T GRCh38
NC_000023.10:g.43808932G>T , CM000685.1:g.43808932G>T GRCh37
NC_000023.9:g.43693876G>T NCBI36
NG_009832.1:g.28990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*113C>A MANE Select ENSP00000495972.1:n.*113C>A
ENST00000647044.1:c.*113C>A ENSP00000495811.1:n.*113C>A
ENST00000378062.5:c.*113C>A ENSP00000367301.5:n.*113C>A
ENST00000470584.1:n.559C>A
NM_000266.3:c.*113C>A NP_000257.1:n.*113C>A
NM_000266.4:c.*113C>A MANE Select NP_000257.1:n.*113C>A