Canonical Allele Identifier: CA443372417
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871551C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871442C>A , CM000667.2:g.14871442C>A GRCh38
NC_000005.9:g.14871551C>A , CM000667.1:g.14871551C>A GRCh37
NC_000005.8:g.14924551C>A NCBI36
NG_008273.1:g.5337G>T
NG_008273.2:g.5344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.6G>T MANE Select ENSP00000284268.6:p.Val2=
ENST00000284268.6:c.6G>T ENSP00000284268.6:p.Val2=
ENST00000505140.1:c.6G>T ENSP00000426332.1:p.Val2=
ENST00000513115.1:n.31G>T
NM_054027.4:c.6G>T NP_473368.1:p.Val2=
XM_011514067.1:c.6G>T XP_011512369.1:p.Val2=
NM_054027.5:c.6G>T NP_473368.1:p.Val2=
NM_054027.6:c.6G>T MANE Select NP_473368.1:p.Val2=