Canonical Allele Identifier: CA131900019

Gene: HK3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176891134A>G , CM000667.2:g.176891134A>G	GRCh38
NC_000005.9:g.176318135A>G , CM000667.1:g.176318135A>G	GRCh37
NC_000005.8:g.176250741A>G	NCBI36
NG_047006.1:g.13240T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002115.3:c.317T>C MANE Select	NP_002106.2:p.Leu106Ser
ENST00000292432.10:c.317T>C MANE Select	ENSP00000292432.5:p.Leu106Ser
NM_002115.2:c.317T>C	NP_002106.2:p.Leu106Ser
ENST00000292432.9:c.317T>C	ENSP00000292432.5:p.Leu106Ser
ENST00000504910.1:c.150T>C	ENSP00000427000.1:p.Phe50=
ENST00000509717.5:c.297T>C	ENSP00000422169.1:p.Phe99=
XM_011534540.1:c.317T>C	XP_011532842.1:p.Leu106Ser
XM_011534540.2:c.317T>C	XP_011532842.1:p.Leu106Ser
XM_017009411.1:c.146T>C	XP_016864900.1:p.Leu49Ser
XR_941101.1:n.450T>C
XR_941102.1:n.450T>C
XR_941102.2:n.450T>C