Canonical Allele Identifier: CA443289652

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769178G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769069G>C , CM000667.2:g.14769069G>C	GRCh38
NC_000005.9:g.14769178G>C , CM000667.1:g.14769178G>C	GRCh37
NC_000005.8:g.14822178G>C	NCBI36
NG_008273.1:g.107710C>G
NG_008273.2:g.107717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.219C>G MANE Select	ENSP00000284268.6:p.Gly73=
ENST00000646501.1:c.82C>G
ENST00000284268.6:c.219C>G	ENSP00000284268.6:p.Gly73=
ENST00000503389.1:n.225C>G
ENST00000513115.1:n.244C>G
NM_054027.4:c.219C>G	NP_473368.1:p.Gly73=
XM_011514067.1:c.219C>G	XP_011512369.1:p.Gly73=
NM_054027.5:c.219C>G	NP_473368.1:p.Gly73=
XM_017009644.2:c.135C>G	XP_016865133.1:p.Gly45=
NM_054027.6:c.219C>G MANE Select	NP_473368.1:p.Gly73=