Canonical Allele Identifier: CA1528949251
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1735833471
gnomAD v4: 5-14871612-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871612C>T , CM000667.2:g.14871612C>T GRCh38
NC_000005.9:g.14871721C>T , CM000667.1:g.14871721C>T GRCh37
NC_000005.8:g.14924721C>T NCBI36
NG_008273.1:g.5167G>A
NG_008273.2:g.5174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-165G>A MANE Select ENSP00000284268.6:n.-165G>A
ENST00000284268.6:c.-165G>A ENSP00000284268.6:n.-165G>A
ENST00000505140.1:c.-165G>A ENSP00000426332.1:n.-165G>A
NM_054027.4:c.-165G>A NP_473368.1:n.-165G>A
XM_011514067.1:c.-165G>A XP_011512369.1:n.-165G>A
NM_054027.5:c.-165G>A NP_473368.1:n.-165G>A
NM_054027.6:c.-165G>A MANE Select NP_473368.1:n.-165G>A
Search 100 bp 5'
Search 100 bp 3'