Canonical Allele Identifier: CA443289725

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769205A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769096A>C , CM000667.2:g.14769096A>C	GRCh38
NC_000005.9:g.14769205A>C , CM000667.1:g.14769205A>C	GRCh37
NC_000005.8:g.14822205A>C	NCBI36
NG_008273.1:g.107683T>G
NG_008273.2:g.107690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.192T>G MANE Select	ENSP00000284268.6:p.Gly64=
ENST00000646501.1:c.55T>G
ENST00000284268.6:c.192T>G	ENSP00000284268.6:p.Gly64=
ENST00000503389.1:n.198T>G
ENST00000513115.1:n.217T>G
NM_054027.4:c.192T>G	NP_473368.1:p.Gly64=
XM_011514067.1:c.192T>G	XP_011512369.1:p.Gly64=
NM_054027.5:c.192T>G	NP_473368.1:p.Gly64=
XM_017009644.2:c.108T>G	XP_016865133.1:p.Gly36=
NM_054027.6:c.192T>G MANE Select	NP_473368.1:p.Gly64=