Canonical Allele Identifier: CA359245361

Gene: ANKH

Linked Data

• dbSNP Id: rs758021005
• gnomAD v4: 5-14716767-G-C
• MyVariant Identifiers: chr5:g.14716876G>C (hg19) ; chr5:g.14716767G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716767G>C , CM000667.2:g.14716767G>C	GRCh38
NC_000005.9:g.14716876G>C , CM000667.1:g.14716876G>C	GRCh37
NC_000005.8:g.14769876G>C	NCBI36
NG_008273.1:g.160012C>G
NG_008273.2:g.160019C>G
NG_051625.1:g.60974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1080C>G MANE Select	ENSP00000284268.6:p.Asp360Glu
ENST00000284268.6:c.1080C>G	ENSP00000284268.6:p.Asp360Glu
ENST00000502585.1:n.322C>G
NM_054027.4:c.1080C>G	NP_473368.1:p.Asp360Glu
NM_054027.5:c.1080C>G	NP_473368.1:p.Asp360Glu
XM_017009644.2:c.996C>G	XP_016865133.1:p.Asp332Glu
NM_054027.6:c.1080C>G MANE Select	NP_473368.1:p.Asp360Glu