Canonical Allele Identifier: CA114720377

Gene: ANKH

Linked Data

• dbSNP Id: rs985187845
• gnomAD v2: 5-14717053-G-A
• gnomAD v3: 5-14716944-G-A
• gnomAD v4: 5-14716944-G-A
• MyVariant Identifiers: chr5:g.14717053G>A (hg19) ; chr5:g.14716944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716944G>A , CM000667.2:g.14716944G>A	GRCh38
NC_000005.9:g.14717053G>A , CM000667.1:g.14717053G>A	GRCh37
NC_000005.8:g.14770053G>A	NCBI36
NG_008273.1:g.159835C>T
NG_008273.2:g.159842C>T
NG_051625.1:g.61151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-109C>T MANE Select	ENSP00000284268.6:n.1012-109C>T
ENST00000284268.6:c.1012-109C>T	ENSP00000284268.6:n.1012-109C>T
ENST00000502585.1:n.145C>T
NM_054027.4:c.1012-109C>T	NP_473368.1:n.1012-109C>T
NM_054027.5:c.1012-109C>T	NP_473368.1:n.1012-109C>T
XM_017009644.2:c.928-109C>T	XP_016865133.1:n.928-109C>T
NM_054027.6:c.1012-109C>T MANE Select	NP_473368.1:n.1012-109C>T