Canonical Allele Identifier: CA5714559

Gene: SFXN4

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119158013G>A , CM000672.2:g.119158013G>A	GRCh38
NC_000010.10:g.120917525G>A , CM000672.1:g.120917525G>A	GRCh37
NC_000010.9:g.120907515G>A	NCBI36
NG_033895.1:g.12680C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213649.2:c.410C>T MANE Select	NP_998814.1:p.Pro137Leu
ENST00000355697.7:c.410C>T MANE Select	ENSP00000347924.2:p.Pro137Leu
NM_213649.1:c.410C>T	NP_998814.1:p.Pro137Leu
NR_110305.1:n.428C>T
ENST00000355697.6:c.410C>T	ENSP00000347924.2:p.Pro137Leu
ENST00000369131.8:c.62C>T	ENSP00000358127.4:p.Pro21Leu
ENST00000419372.5:c.62C>T	ENSP00000414193.1:p.Pro21Leu
ENST00000461438.5:n.439C>T
ENST00000462913.1:n.272C>T
ENST00000466218.5:n.359C>T
XM_005269525.3:c.383C>T	XP_005269582.1:p.Pro128Leu
XM_005269525.5:c.383C>T	XP_005269582.1:p.Pro128Leu
XM_005269526.1:c.62C>T	XP_005269583.1:p.Pro21Leu
XM_005269526.2:c.62C>T	XP_005269583.1:p.Pro21Leu
XM_005269527.1:c.62C>T	XP_005269584.1:p.Pro21Leu
XM_011539282.1:c.62C>T	XP_011537584.1:p.Pro21Leu
XM_011539282.2:c.62C>T	XP_011537584.1:p.Pro21Leu
XM_024447793.1:c.62C>T	XP_024303561.1:p.Pro21Leu
XR_001747022.1:n.661C>T
XR_001747023.1:n.555C>T
XR_945603.1:n.472C>T
XR_945603.3:n.491C>T