Canonical Allele Identifier: CA336111767

Gene: HTATSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136499613A>C , CM000685.2:g.136499613A>C	GRCh38
NC_000023.10:g.135581772A>C , CM000685.1:g.135581772A>C	GRCh37
NC_000023.9:g.135409438A>C	NCBI36
NG_013235.1:g.7535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218364.5:c.202A>C MANE Select	ENSP00000218364.4:p.Ile68Leu
ENST00000218364.4:c.202A>C	ENSP00000218364.4:p.Ile68Leu
ENST00000425695.5:c.202A>C	ENSP00000412420.1:p.Ile68Leu
ENST00000448450.5:c.202A>C	ENSP00000411381.1:p.Ile68Leu
ENST00000535601.5:c.202A>C	ENSP00000442699.1:p.Ile68Leu
NM_001163280.1:c.202A>C	NP_001156752.1:p.Ile68Leu
NM_014500.4:c.202A>C	NP_055315.2:p.Ile68Leu
XM_005262404.3:c.202A>C	XP_005262461.1:p.Ile68Leu
XM_005262404.4:c.202A>C	XP_005262461.1:p.Ile68Leu
NM_014500.5:c.202A>C MANE Select	NP_055315.2:p.Ile68Leu
NM_001163280.2:c.202A>C	NP_001156752.1:p.Ile68Leu