Canonical Allele Identifier: CA3209211

Gene: ANKH

Linked Data

• dbSNP Id: rs756339399
• ExAC: 5:14769320 C / A
• gnomAD v2: 5-14769320-C-A
• gnomAD v3: 5-14769211-C-A
• gnomAD v4: 5-14769211-C-A
• MyVariant Identifiers: chr5:g.14769320C>A (hg19) ; chr5:g.14769211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769211C>A , CM000667.2:g.14769211C>A	GRCh38
NC_000005.9:g.14769320C>A , CM000667.1:g.14769320C>A	GRCh37
NC_000005.8:g.14822320C>A	NCBI36
NG_008273.1:g.107568G>T
NG_008273.2:g.107575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.97-20G>T MANE Select	ENSP00000284268.6:n.97-20G>T
ENST00000284268.6:c.97-20G>T	ENSP00000284268.6:n.97-20G>T
ENST00000503389.1:n.103-20G>T
ENST00000513115.1:n.122-20G>T
NM_054027.4:c.97-20G>T	NP_473368.1:n.97-20G>T
XM_011514067.1:c.97-20G>T	XP_011512369.1:n.97-20G>T
NM_054027.5:c.97-20G>T	NP_473368.1:n.97-20G>T
XM_017009644.2:c.13-20G>T	XP_016865133.1:n.13-20G>T
NM_054027.6:c.97-20G>T MANE Select	NP_473368.1:n.97-20G>T