Canonical Allele Identifier: CA2673310461

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716699-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716699T>C , CM000667.2:g.14716699T>C	GRCh38
NC_000005.9:g.14716808T>C , CM000667.1:g.14716808T>C	GRCh37
NC_000005.8:g.14769808T>C	NCBI36
NG_008273.1:g.160080A>G
NG_008273.2:g.160087A>G
NG_051625.1:g.60906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+7A>G MANE Select	ENSP00000284268.6:n.1141+7A>G
ENST00000284268.6:c.1141+7A>G	ENSP00000284268.6:n.1141+7A>G
ENST00000502585.1:n.383+7A>G
NM_054027.4:c.1141+7A>G	NP_473368.1:n.1141+7A>G
NM_054027.5:c.1141+7A>G	NP_473368.1:n.1141+7A>G
XM_017009644.2:c.1057+7A>G	XP_016865133.1:n.1057+7A>G
NM_054027.6:c.1141+7A>G MANE Select	NP_473368.1:n.1141+7A>G