Canonical Allele Identifier: CA359245458
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716811-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716811G>T , CM000667.2:g.14716811G>T GRCh38
NC_000005.9:g.14716920G>T , CM000667.1:g.14716920G>T GRCh37
NC_000005.8:g.14769920G>T NCBI36
NG_008273.1:g.159968C>A
NG_008273.2:g.159975C>A
NG_051625.1:g.61018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1036C>A MANE Select ENSP00000284268.6:p.Pro346Thr
ENST00000284268.6:c.1036C>A ENSP00000284268.6:p.Pro346Thr
ENST00000502585.1:n.278C>A
NM_054027.4:c.1036C>A NP_473368.1:p.Pro346Thr
NM_054027.5:c.1036C>A NP_473368.1:p.Pro346Thr
XM_017009644.2:c.952C>A XP_016865133.1:p.Pro318Thr
NM_054027.6:c.1036C>A MANE Select NP_473368.1:p.Pro346Thr