Canonical Allele Identifier: CA359253968

Gene: ANKH

Linked Data

• gnomAD v4: 5-14769187-A-G
• MyVariant Identifiers: chr5:g.14769296A>G (hg19) ; chr5:g.14769187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769187A>G , CM000667.2:g.14769187A>G	GRCh38
NC_000005.9:g.14769296A>G , CM000667.1:g.14769296A>G	GRCh37
NC_000005.8:g.14822296A>G	NCBI36
NG_008273.1:g.107592T>C
NG_008273.2:g.107599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.101T>C MANE Select	ENSP00000284268.6:p.Leu34Ser
ENST00000284268.6:c.101T>C	ENSP00000284268.6:p.Leu34Ser
ENST00000503389.1:n.107T>C
ENST00000513115.1:n.126T>C
NM_054027.4:c.101T>C	NP_473368.1:p.Leu34Ser
XM_011514067.1:c.101T>C	XP_011512369.1:p.Leu34Ser
NM_054027.5:c.101T>C	NP_473368.1:p.Leu34Ser
XM_017009644.2:c.17T>C	XP_016865133.1:p.Leu6Ser
NM_054027.6:c.101T>C MANE Select	NP_473368.1:p.Leu34Ser