Canonical Allele Identifier: CA359286001

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871361-G-T
• MyVariant Identifiers: chr5:g.14871470G>T (hg19) ; chr5:g.14871361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871361G>T , CM000667.2:g.14871361G>T	GRCh38
NC_000005.9:g.14871470G>T , CM000667.1:g.14871470G>T	GRCh37
NC_000005.8:g.14924470G>T	NCBI36
NG_008273.1:g.5418C>A
NG_008273.2:g.5425C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.87C>A MANE Select	ENSP00000284268.6:p.Phe29Leu
ENST00000284268.6:c.87C>A	ENSP00000284268.6:p.Phe29Leu
ENST00000505140.1:c.87C>A	ENSP00000426332.1:p.Phe29Leu
ENST00000513115.1:n.112C>A
NM_054027.4:c.87C>A	NP_473368.1:p.Phe29Leu
XM_011514067.1:c.87C>A	XP_011512369.1:p.Phe29Leu
NM_054027.5:c.87C>A	NP_473368.1:p.Phe29Leu
NM_054027.6:c.87C>A MANE Select	NP_473368.1:p.Phe29Leu