Canonical Allele Identifier: CA4281240
Community Standard Title: NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70790224C>T , CM000669.2:g.70790224C>T GRCh38
NC_000007.13:g.70255210C>T , CM000669.1:g.70255210C>T GRCh37
NC_000007.12:g.69893146C>T NCBI36
NG_034133.1:g.1196306C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.3008C>T MANE Select NP_056385.1:p.Ser1003Leu
ENST00000342771.10:c.3008C>T MANE Select ENSP00000344087.4:p.Ser1003Leu
NM_001127231.2:c.2936C>T NP_001120703.1:p.Ser979Leu
NM_001127231.3:c.2936C>T NP_001120703.1:p.Ser979Leu
NM_015570.3:c.3008C>T NP_056385.1:p.Ser1003Leu
ENST00000342771.8:c.3008C>T ENSP00000344087.4:p.Ser1003Leu
ENST00000406775.6:c.2936C>T ENSP00000385263.2:p.Ser979Leu
ENST00000611706.4:c.2264C>T ENSP00000478134.1:p.Ser755Leu
ENST00000615871.4:c.2192C>T ENSP00000479325.1:p.Ser731Leu
ENST00000644359.1:c.1589C>T ENSP00000494561.1:p.Ser530Leu
ENST00000644506.1:c.1634C>T ENSP00000496672.1:p.Ser545Leu
ENST00000644939.1:c.3005C>T ENSP00000496726.1:p.Ser1002Leu
ENST00000647140.1:c.1873C>T
ENST00000700075.1:c.934C>T ENSP00000514784.1:n.934C>T
XM_005250257.1:c.1655C>T XP_005250314.1:p.Ser552Leu
XM_005250257.2:c.1655C>T XP_005250314.1:p.Ser552Leu
XM_011516010.1:c.3029C>T XP_011514312.1:p.Ser1010Leu
XM_011516010.2:c.3029C>T XP_011514312.1:p.Ser1010Leu
XM_011516011.1:c.3026C>T XP_011514313.1:p.Ser1009Leu
XM_011516011.2:c.3026C>T XP_011514313.1:p.Ser1009Leu
XM_011516012.1:c.2963C>T XP_011514314.1:p.Ser988Leu
XM_011516012.2:c.2963C>T XP_011514314.1:p.Ser988Leu
XM_011516013.1:c.2957C>T XP_011514315.1:p.Ser986Leu
XM_011516013.2:c.2957C>T XP_011514315.1:p.Ser986Leu
XM_011516014.1:c.2927C>T XP_011514316.1:p.Ser976Leu
XM_011516014.2:c.2927C>T XP_011514316.1:p.Ser976Leu
XM_011516015.1:c.2765C>T XP_011514317.1:p.Ser922Leu
XM_011516016.1:c.2738C>T XP_011514318.1:p.Ser913Leu
XM_011516017.1:c.2555C>T XP_011514319.1:p.Ser852Leu
XM_011516017.2:c.2555C>T XP_011514319.1:p.Ser852Leu
XM_011516018.1:c.2528C>T XP_011514320.1:p.Ser843Leu
XM_011516018.2:c.2528C>T XP_011514320.1:p.Ser843Leu
XM_017011951.2:c.*503C>T XP_016867440.1:n.*503C>T