Canonical Allele Identifier: CA2673314926
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871656-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871656C>A , CM000667.2:g.14871656C>A GRCh38
NC_000005.9:g.14871765C>A , CM000667.1:g.14871765C>A GRCh37
NC_000005.8:g.14924765C>A NCBI36
NG_008273.1:g.5123G>T
NG_008273.2:g.5130G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.-209G>T MANE Select ENSP00000284268.6:n.-209G>T
ENST00000284268.6:c.-209G>T ENSP00000284268.6:n.-209G>T
ENST00000505140.1:c.-209G>T ENSP00000426332.1:n.-209G>T
NM_054027.4:c.-209G>T NP_473368.1:n.-209G>T
XM_011514067.1:c.-209G>T XP_011512369.1:n.-209G>T
NM_054027.5:c.-209G>T NP_473368.1:n.-209G>T
NM_054027.6:c.-209G>T MANE Select NP_473368.1:n.-209G>T
Search 100 bp 5'
Search 100 bp 3'