Canonical Allele Identifier: CA359245577

Gene: ANKH

Linked Data

• dbSNP Id: rs150338234
• gnomAD v3: 5-14741851-G-C
• gnomAD v4: 5-14741851-G-C
• MyVariant Identifiers: chr5:g.14741960G>C (hg19) ; chr5:g.14741851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741851G>C , CM000667.2:g.14741851G>C	GRCh38
NC_000005.9:g.14741960G>C , CM000667.1:g.14741960G>C	GRCh37
NC_000005.8:g.14794960G>C	NCBI36
NG_008273.1:g.134928C>G
NG_008273.2:g.134935C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.987C>G MANE Select	ENSP00000284268.6:p.Phe329Leu
ENST00000284268.6:c.987C>G	ENSP00000284268.6:p.Phe329Leu
ENST00000503939.5:n.499C>G
ENST00000515517.1:n.221C>G
NM_054027.4:c.987C>G	NP_473368.1:p.Phe329Leu
XM_011514067.1:c.987C>G	XP_011512369.1:p.Phe329Leu
NM_054027.5:c.987C>G	NP_473368.1:p.Phe329Leu
XM_017009644.2:c.903C>G	XP_016865133.1:p.Phe301Leu
NM_054027.6:c.987C>G MANE Select	NP_473368.1:p.Phe329Leu