Canonical Allele Identifier: CA359245293
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716735A>T , CM000667.2:g.14716735A>T GRCh38
NC_000005.9:g.14716844A>T , CM000667.1:g.14716844A>T GRCh37
NC_000005.8:g.14769844A>T NCBI36
NG_008273.1:g.160044T>A
NG_008273.2:g.160051T>A
NG_051625.1:g.60942A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1112T>A MANE Select ENSP00000284268.6:p.Leu371Ter
ENST00000284268.6:c.1112T>A ENSP00000284268.6:p.Leu371Ter
ENST00000502585.1:n.354T>A
NM_054027.4:c.1112T>A NP_473368.1:p.Leu371Ter
NM_054027.5:c.1112T>A NP_473368.1:p.Leu371Ter
XM_017009644.2:c.1028T>A XP_016865133.1:p.Leu343Ter
NM_054027.6:c.1112T>A MANE Select NP_473368.1:p.Leu371Ter