Canonical Allele Identifier: CA443295607
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs2126415457
MyVariant Identifiers: chr5:g.14716899A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716790A>G , CM000667.2:g.14716790A>G GRCh38
NC_000005.9:g.14716899A>G , CM000667.1:g.14716899A>G GRCh37
NC_000005.8:g.14769899A>G NCBI36
NG_008273.1:g.159989T>C
NG_008273.2:g.159996T>C
NG_051625.1:g.60997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1057T>C MANE Select ENSP00000284268.6:p.Leu353=
ENST00000284268.6:c.1057T>C ENSP00000284268.6:p.Leu353=
ENST00000502585.1:n.299T>C
NM_054027.4:c.1057T>C NP_473368.1:p.Leu353=
NM_054027.5:c.1057T>C NP_473368.1:p.Leu353=
XM_017009644.2:c.973T>C XP_016865133.1:p.Leu325=
NM_054027.6:c.1057T>C MANE Select NP_473368.1:p.Leu353=