Canonical Allele Identifier: CA359253746

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769237G>T (hg19) ; chr5:g.14769128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769128G>T , CM000667.2:g.14769128G>T	GRCh38
NC_000005.9:g.14769237G>T , CM000667.1:g.14769237G>T	GRCh37
NC_000005.8:g.14822237G>T	NCBI36
NG_008273.1:g.107651C>A
NG_008273.2:g.107658C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.160C>A MANE Select	ENSP00000284268.6:p.Leu54Met
ENST00000646501.1:c.23C>A
ENST00000284268.6:c.160C>A	ENSP00000284268.6:p.Leu54Met
ENST00000503389.1:n.166C>A
ENST00000513115.1:n.185C>A
NM_054027.4:c.160C>A	NP_473368.1:p.Leu54Met
XM_011514067.1:c.160C>A	XP_011512369.1:p.Leu54Met
NM_054027.5:c.160C>A	NP_473368.1:p.Leu54Met
XM_017009644.2:c.76C>A	XP_016865133.1:p.Leu26Met
NM_054027.6:c.160C>A MANE Select	NP_473368.1:p.Leu54Met