Canonical Allele Identifier: CA443289788

Gene: ANKH

Linked Data

• gnomAD v4: 5-14769138-G-C
• MyVariant Identifiers: chr5:g.14769247G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769138G>C , CM000667.2:g.14769138G>C	GRCh38
NC_000005.9:g.14769247G>C , CM000667.1:g.14769247G>C	GRCh37
NC_000005.8:g.14822247G>C	NCBI36
NG_008273.1:g.107641C>G
NG_008273.2:g.107648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.150C>G MANE Select	ENSP00000284268.6:p.Ala50=
ENST00000646501.1:c.13C>G
ENST00000284268.6:c.150C>G	ENSP00000284268.6:p.Ala50=
ENST00000503389.1:n.156C>G
ENST00000513115.1:n.175C>G
NM_054027.4:c.150C>G	NP_473368.1:p.Ala50=
XM_011514067.1:c.150C>G	XP_011512369.1:p.Ala50=
NM_054027.5:c.150C>G	NP_473368.1:p.Ala50=
XM_017009644.2:c.66C>G	XP_016865133.1:p.Ala22=
NM_054027.6:c.150C>G MANE Select	NP_473368.1:p.Ala50=