Canonical Allele Identifier: CA12547726

Gene: AHCYL2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129383756C>T , CM000669.2:g.129383756C>T	GRCh38
NC_000007.13:g.129023597C>T , CM000669.1:g.129023597C>T	GRCh37
NC_000007.12:g.128810833C>T	NCBI36
NG_029180.1:g.163743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325006.8:c.475+4007C>T MANE Select	ENSP00000315931.3:n.475+4007C>T
ENST00000325006.7:c.475+4007C>T	ENSP00000315931.3:n.475+4007C>T
ENST00000446544.6:c.472+4007C>T	ENSP00000413639.2:n.472+4007C>T
ENST00000460109.5:c.169+4007C>T	ENSP00000419717.1:n.169+4007C>T
ENST00000461161.5:n.271+4007C>T
ENST00000466924.1:c.195+4007C>T
ENST00000466993.5:c.169+4007C>T	ENSP00000419608.1:n.169+4007C>T
ENST00000474594.5:c.166+4007C>T	ENSP00000420459.1:n.166+4007C>T
ENST00000490911.5:c.166+4007C>T	ENSP00000420801.1:n.166+4007C>T
NM_001130720.2:c.472+4007C>T	NP_001124192.1:n.472+4007C>T
NM_001130722.2:c.166+4007C>T	NP_001124194.2:n.166+4007C>T
NM_001130723.2:c.166+4007C>T	NP_001124195.1:n.166+4007C>T
NM_015328.3:c.475+4007C>T	NP_056143.1:n.475+4007C>T
XM_005250237.1:c.169+4007C>T	XP_005250294.1:n.169+4007C>T
XM_011515986.1:c.217+4007C>T	XP_011514288.1:n.217+4007C>T
XM_011515987.1:c.169+4007C>T	XP_011514289.1:n.169+4007C>T
XM_011515988.1:c.169+4007C>T	XP_011514290.1:n.169+4007C>T
XM_011515987.2:c.169+4007C>T	XP_011514289.1:n.169+4007C>T
XM_011515988.2:c.169+4007C>T	XP_011514290.1:n.169+4007C>T
XM_017011904.1:c.-147+4007C>T	XP_016867393.1:n.-147+4007C>T
XM_017011905.2:c.-147+4007C>T	XP_016867394.1:n.-147+4007C>T
XM_017011906.1:c.-147+4007C>T	XP_016867395.1:n.-147+4007C>T
XM_017011907.1:c.-147+4007C>T	XP_016867396.1:n.-147+4007C>T
NM_001130720.3:c.472+4007C>T	NP_001124192.1:n.472+4007C>T
NM_001130722.3:c.166+4007C>T	NP_001124194.2:n.166+4007C>T
NM_001130723.3:c.166+4007C>T	NP_001124195.1:n.166+4007C>T
NM_015328.4:c.475+4007C>T MANE Select	NP_056143.1:n.475+4007C>T
NM_001393386.1:c.166+4007C>T	NP_001380315.1:n.166+4007C>T
NM_001393387.1:c.475+4007C>T	NP_001380316.1:n.475+4007C>T
NM_001393388.1:c.-147+4007C>T	NP_001380317.1:n.-147+4007C>T
NM_001393389.1:c.-147+4007C>T	NP_001380318.1:n.-147+4007C>T
NR_171671.1:n.601+4007C>T