Canonical Allele Identifier: CA516139181

Linked Data

dbSNP Id: rs1397257165
gnomAD v2: X-43809003-T-C
gnomAD v4: X-43949757-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949757T>C , CM000685.2:g.43949757T>C GRCh38
NC_000023.10:g.43809003T>C , CM000685.1:g.43809003T>C GRCh37
NC_000023.9:g.43693947T>C NCBI36
NG_009832.1:g.28919A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*42A>G (NDP) MANE Select ENSP00000495972.1:n.*42A>G
ENST00000647044.1:c.*42A>G (NDP) ENSP00000495811.1:n.*42A>G
ENST00000378062.5:c.*42A>G (NDP) ENSP00000367301.5:n.*42A>G
ENST00000470584.1:n.488A>G (NDP)
NM_000266.3:c.*42A>G (NDP) NP_000257.1:n.*42A>G
NR_046631.1:n.26T>C (NDP-AS1)
NM_000266.4:c.*42A>G (NDP) MANE Select NP_000257.1:n.*42A>G