Canonical Allele Identifier: CA371117919

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43103831G>C , CM000670.2:g.43103831G>C	GRCh38
NC_000008.10:g.42958974G>C , CM000670.1:g.42958974G>C	GRCh37
NC_000008.9:g.43078131G>C	NCBI36
NG_033235.1:g.15326G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032237.5:c.282+1G>C MANE Select	NP_115613.1:n.282+1G>C
ENST00000331373.10:c.282+1G>C MANE Select	ENSP00000331258.5:n.282+1G>C
NM_001277971.1:c.282+1G>C	NP_001264900.1:n.282+1G>C
NM_001277971.2:c.282+1G>C	NP_001264900.1:n.282+1G>C
NM_032237.4:c.282+1G>C	NP_115613.1:n.282+1G>C
ENST00000331373.9:c.282+1G>C	ENSP00000331258.5:n.282+1G>C
ENST00000518991.5:c.282+1G>C	ENSP00000429090.1:n.282+1G>C
ENST00000614426.1:c.282+1G>C	ENSP00000478821.1:n.282+1G>C
ENST00000614426.2:c.282+1G>C	ENSP00000478821.2:n.282+1G>C
ENST00000674727.1:n.541G>C
ENST00000674782.1:c.282+1G>C	ENSP00000501683.1:n.282+1G>C
ENST00000674937.1:c.240+43G>C	ENSP00000501823.1:n.240+43G>C
ENST00000676178.1:c.282+1G>C	ENSP00000502007.1:n.282+1G>C
ENST00000676193.1:c.282+1G>C	ENSP00000502774.1:n.282+1G>C
XM_011544668.1:c.282+1G>C	XP_011542970.1:n.282+1G>C
XM_011544669.1:c.282+1G>C	XP_011542971.1:n.282+1G>C