Canonical Allele Identifier: CA359253599

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769214G>C (hg19) ; chr5:g.14769105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769105G>C , CM000667.2:g.14769105G>C	GRCh38
NC_000005.9:g.14769214G>C , CM000667.1:g.14769214G>C	GRCh37
NC_000005.8:g.14822214G>C	NCBI36
NG_008273.1:g.107674C>G
NG_008273.2:g.107681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.183C>G MANE Select	ENSP00000284268.6:p.Phe61Leu
ENST00000646501.1:c.46C>G
ENST00000284268.6:c.183C>G	ENSP00000284268.6:p.Phe61Leu
ENST00000503389.1:n.189C>G
ENST00000513115.1:n.208C>G
NM_054027.4:c.183C>G	NP_473368.1:p.Phe61Leu
XM_011514067.1:c.183C>G	XP_011512369.1:p.Phe61Leu
NM_054027.5:c.183C>G	NP_473368.1:p.Phe61Leu
XM_017009644.2:c.99C>G	XP_016865133.1:p.Phe33Leu
NM_054027.6:c.183C>G MANE Select	NP_473368.1:p.Phe61Leu