Canonical Allele Identifier: CA2673311305

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741757-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741757T>C , CM000667.2:g.14741757T>C	GRCh38
NC_000005.9:g.14741866T>C , CM000667.1:g.14741866T>C	GRCh37
NC_000005.8:g.14794866T>C	NCBI36
NG_008273.1:g.135022A>G
NG_008273.2:g.135029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+70A>G MANE Select	ENSP00000284268.6:n.1011+70A>G
ENST00000284268.6:c.1011+70A>G	ENSP00000284268.6:n.1011+70A>G
ENST00000503939.5:n.523+70A>G
ENST00000515517.1:n.315A>G
NM_054027.4:c.1011+70A>G	NP_473368.1:n.1011+70A>G
XM_011514067.1:c.1011+70A>G	XP_011512369.1:n.1011+70A>G
NM_054027.5:c.1011+70A>G	NP_473368.1:n.1011+70A>G
XM_017009644.2:c.927+70A>G	XP_016865133.1:n.927+70A>G
NM_054027.6:c.1011+70A>G MANE Select	NP_473368.1:n.1011+70A>G