Canonical Allele Identifier: CA359253905

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769279C>A (hg19) ; chr5:g.14769170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769170C>A , CM000667.2:g.14769170C>A	GRCh38
NC_000005.9:g.14769279C>A , CM000667.1:g.14769279C>A	GRCh37
NC_000005.8:g.14822279C>A	NCBI36
NG_008273.1:g.107609G>T
NG_008273.2:g.107616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.118G>T MANE Select	ENSP00000284268.6:p.Ala40Ser
ENST00000284268.6:c.118G>T	ENSP00000284268.6:p.Ala40Ser
ENST00000503389.1:n.124G>T
ENST00000513115.1:n.143G>T
NM_054027.4:c.118G>T	NP_473368.1:p.Ala40Ser
XM_011514067.1:c.118G>T	XP_011512369.1:p.Ala40Ser
NM_054027.5:c.118G>T	NP_473368.1:p.Ala40Ser
XM_017009644.2:c.34G>T	XP_016865133.1:p.Ala12Ser
NM_054027.6:c.118G>T MANE Select	NP_473368.1:p.Ala40Ser