Canonical Allele Identifier: CA359245438
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716910G>C (hg19) chr5:g.14716801G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716801G>C , CM000667.2:g.14716801G>C GRCh38
NC_000005.9:g.14716910G>C , CM000667.1:g.14716910G>C GRCh37
NC_000005.8:g.14769910G>C NCBI36
NG_008273.1:g.159978C>G
NG_008273.2:g.159985C>G
NG_051625.1:g.61008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1046C>G MANE Select ENSP00000284268.6:p.Ser349Cys
ENST00000284268.6:c.1046C>G ENSP00000284268.6:p.Ser349Cys
ENST00000502585.1:n.288C>G
NM_054027.4:c.1046C>G NP_473368.1:p.Ser349Cys
NM_054027.5:c.1046C>G NP_473368.1:p.Ser349Cys
XM_017009644.2:c.962C>G XP_016865133.1:p.Ser321Cys
NM_054027.6:c.1046C>G MANE Select NP_473368.1:p.Ser349Cys
Search 100 bp 5'
Search 100 bp 3'