Canonical Allele Identifier: CA2673310428

Gene: ANKH

Linked Data

• gnomAD v4: 5-14716609-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716609A>C , CM000667.2:g.14716609A>C	GRCh38
NC_000005.9:g.14716718A>C , CM000667.1:g.14716718A>C	GRCh37
NC_000005.8:g.14769718A>C	NCBI36
NG_008273.1:g.160170T>G
NG_008273.2:g.160177T>G
NG_051625.1:g.60816A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+97T>G MANE Select	ENSP00000284268.6:n.1141+97T>G
ENST00000284268.6:c.1141+97T>G	ENSP00000284268.6:n.1141+97T>G
ENST00000502585.1:n.383+97T>G
NM_054027.4:c.1141+97T>G	NP_473368.1:n.1141+97T>G
NM_054027.5:c.1141+97T>G	NP_473368.1:n.1141+97T>G
XM_017009644.2:c.1057+97T>G	XP_016865133.1:n.1057+97T>G
NM_054027.6:c.1141+97T>G MANE Select	NP_473368.1:n.1141+97T>G