Canonical Allele Identifier: CA359253989
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14769301C>G (hg19) chr5:g.14769192C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769192C>G , CM000667.2:g.14769192C>G GRCh38
NC_000005.9:g.14769301C>G , CM000667.1:g.14769301C>G GRCh37
NC_000005.8:g.14822301C>G NCBI36
NG_008273.1:g.107587G>C
NG_008273.2:g.107594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.97-1G>C MANE Select ENSP00000284268.6:n.97-1G>C
ENST00000284268.6:c.97-1G>C ENSP00000284268.6:n.97-1G>C
ENST00000503389.1:n.103-1G>C
ENST00000513115.1:n.122-1G>C
NM_054027.4:c.97-1G>C NP_473368.1:n.97-1G>C
XM_011514067.1:c.97-1G>C XP_011512369.1:n.97-1G>C
NM_054027.5:c.97-1G>C NP_473368.1:n.97-1G>C
XM_017009644.2:c.13-1G>C XP_016865133.1:n.13-1G>C
NM_054027.6:c.97-1G>C MANE Select NP_473368.1:n.97-1G>C
Search 100 bp 5'
Search 100 bp 3'