Canonical Allele Identifier: CA3209282
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs769173795
ExAC: 5:14871587 T / C
gnomAD v2: 5-14871587-T-C
gnomAD v4: 5-14871478-T-C
MyVariant Identifiers: chr5:g.14871587T>C (hg19) chr5:g.14871478T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871478T>C , CM000667.2:g.14871478T>C GRCh38
NC_000005.9:g.14871587T>C , CM000667.1:g.14871587T>C GRCh37
NC_000005.8:g.14924587T>C NCBI36
NG_008273.1:g.5301A>G
NG_008273.2:g.5308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-31A>G MANE Select ENSP00000284268.6:n.-31A>G
ENST00000284268.6:c.-31A>G ENSP00000284268.6:n.-31A>G
ENST00000505140.1:c.-31A>G ENSP00000426332.1:n.-31A>G
NM_054027.4:c.-31A>G NP_473368.1:n.-31A>G
XM_011514067.1:c.-31A>G XP_011512369.1:n.-31A>G
NM_054027.5:c.-31A>G NP_473368.1:n.-31A>G
NM_054027.6:c.-31A>G MANE Select NP_473368.1:n.-31A>G
Search 100 bp 5'
Search 100 bp 3'