Canonical Allele Identifier: CA359245345
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716760A>C , CM000667.2:g.14716760A>C GRCh38
NC_000005.9:g.14716869A>C , CM000667.1:g.14716869A>C GRCh37
NC_000005.8:g.14769869A>C NCBI36
NG_008273.1:g.160019T>G
NG_008273.2:g.160026T>G
NG_051625.1:g.60967A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1087T>G MANE Select ENSP00000284268.6:p.Phe363Val
ENST00000284268.6:c.1087T>G ENSP00000284268.6:p.Phe363Val
ENST00000502585.1:n.329T>G
NM_054027.4:c.1087T>G NP_473368.1:p.Phe363Val
NM_054027.5:c.1087T>G NP_473368.1:p.Phe363Val
XM_017009644.2:c.1003T>G XP_016865133.1:p.Phe335Val
NM_054027.6:c.1087T>G MANE Select NP_473368.1:p.Phe363Val