Canonical Allele Identifier: CA359245566

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741846-C-A
• MyVariant Identifiers: chr5:g.14741955C>A (hg19) ; chr5:g.14741846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741846C>A , CM000667.2:g.14741846C>A	GRCh38
NC_000005.9:g.14741955C>A , CM000667.1:g.14741955C>A	GRCh37
NC_000005.8:g.14794955C>A	NCBI36
NG_008273.1:g.134933G>T
NG_008273.2:g.134940G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.992G>T MANE Select	ENSP00000284268.6:p.Cys331Phe
ENST00000284268.6:c.992G>T	ENSP00000284268.6:p.Cys331Phe
ENST00000503939.5:n.504G>T
ENST00000515517.1:n.226G>T
NM_054027.4:c.992G>T	NP_473368.1:p.Cys331Phe
XM_011514067.1:c.992G>T	XP_011512369.1:p.Cys331Phe
NM_054027.5:c.992G>T	NP_473368.1:p.Cys331Phe
XM_017009644.2:c.908G>T	XP_016865133.1:p.Cys303Phe
NM_054027.6:c.992G>T MANE Select	NP_473368.1:p.Cys331Phe