Canonical Allele Identifier: CA2673312654

Gene: ANKH

Linked Data

• gnomAD v4: 5-14769233-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769233T>C , CM000667.2:g.14769233T>C	GRCh38
NC_000005.9:g.14769342T>C , CM000667.1:g.14769342T>C	GRCh37
NC_000005.8:g.14822342T>C	NCBI36
NG_008273.1:g.107546A>G
NG_008273.2:g.107553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.97-42A>G MANE Select	ENSP00000284268.6:n.97-42A>G
ENST00000284268.6:c.97-42A>G	ENSP00000284268.6:n.97-42A>G
ENST00000503389.1:n.103-42A>G
ENST00000513115.1:n.122-42A>G
NM_054027.4:c.97-42A>G	NP_473368.1:n.97-42A>G
XM_011514067.1:c.97-42A>G	XP_011512369.1:n.97-42A>G
NM_054027.5:c.97-42A>G	NP_473368.1:n.97-42A>G
XM_017009644.2:c.13-42A>G	XP_016865133.1:n.13-42A>G
NM_054027.6:c.97-42A>G MANE Select	NP_473368.1:n.97-42A>G