Canonical Allele Identifier: CA1073463797

Gene: ANKH

Linked Data

• dbSNP Id: rs1738357248
• gnomAD v3: 5-14741650-G-A
• gnomAD v4: 5-14741650-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741650G>A , CM000667.2:g.14741650G>A	GRCh38
NC_000005.9:g.14741759G>A , CM000667.1:g.14741759G>A	GRCh37
NC_000005.8:g.14794759G>A	NCBI36
NG_008273.1:g.135129C>T
NG_008273.2:g.135136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1011+177C>T MANE Select	ENSP00000284268.6:n.1011+177C>T
ENST00000284268.6:c.1011+177C>T	ENSP00000284268.6:n.1011+177C>T
ENST00000503939.5:n.523+177C>T
ENST00000515517.1:n.422C>T
NM_054027.4:c.1011+177C>T	NP_473368.1:n.1011+177C>T
XM_011514067.1:c.1011+177C>T	XP_011512369.1:n.1011+177C>T
NM_054027.5:c.1011+177C>T	NP_473368.1:n.1011+177C>T
XM_017009644.2:c.927+177C>T	XP_016865133.1:n.927+177C>T
NM_054027.6:c.1011+177C>T MANE Select	NP_473368.1:n.1011+177C>T