Canonical Allele Identifier: CA374564129

Gene: ALAD

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113390404C>G , CM000671.2:g.113390404C>G	GRCh38
NC_000009.11:g.116152684C>G , CM000671.1:g.116152684C>G	GRCh37
NC_000009.10:g.115192505C>G	NCBI36
NG_008716.1:g.15935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.570+1G>C MANE Select	ENSP00000386284.3:n.570+1G>C
ENST00000409155.7:c.570+1G>C	ENSP00000386284.3:n.570+1G>C
ENST00000468504.5:n.813+1G>C
ENST00000482847.5:n.843+1G>C
NM_000031.5:c.570+1G>C	NP_000022.3:n.570+1G>C
XM_005251799.1:c.657+1G>C	XP_005251856.1:n.657+1G>C
XM_011518363.1:c.696+1G>C	XP_011516665.1:n.696+1G>C
XM_011518364.1:c.597+1G>C	XP_011516666.1:n.597+1G>C
NM_001003945.2:c.657+1G>C	NP_001003945.1:n.657+1G>C
NM_001317745.1:c.546+1G>C	NP_001304674.1:n.546+1G>C
XM_011518364.2:c.597+1G>C	XP_011516666.1:n.597+1G>C
XM_024447449.1:c.657+1G>C	XP_024303217.1:n.657+1G>C
XR_002956764.1:n.1071G>C
NM_000031.6:c.570+1G>C MANE Select	NP_000022.3:n.570+1G>C
NM_001003945.3:c.657+1G>C	NP_001003945.1:n.657+1G>C
NM_001317745.2:c.546+1G>C	NP_001304674.1:n.546+1G>C