Canonical Allele Identifier: CA981614974

Gene: ELAC2

Linked Data

• gnomAD v3: 17-13016940-T-A
• gnomAD v4: 17-13016940-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13016940T>A , CM000679.2:g.13016940T>A	GRCh38
NC_000017.10:g.12920257T>A , CM000679.1:g.12920257T>A	GRCh37
NC_000017.9:g.12860982T>A	NCBI36
NG_015808.1:g.6125A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.297-8A>T MANE Select	ENSP00000337445.4:n.297-8A>T
ENST00000338034.8:c.297-8A>T	ENSP00000337445.4:n.297-8A>T
ENST00000395962.6:c.240-8A>T	ENSP00000379291.1:n.240-8A>T
ENST00000426905.7:c.297-8A>T	ENSP00000405223.3:n.297-8A>T
ENST00000484122.5:n.559-8A>T
ENST00000578071.1:c.297-8A>T	ENSP00000477482.1:n.297-8A>T
ENST00000580504.5:c.15-8A>T	ENSP00000463594.1:n.15-8A>T
ENST00000581499.6:c.15-8A>T	ENSP00000463321.2:n.15-8A>T
ENST00000583371.5:c.15-8A>T	ENSP00000464358.1:n.15-8A>T
ENST00000609101.5:c.15-8A>T	ENSP00000477044.1:n.15-8A>T
ENST00000609345.1:n.101-15A>T
ENST00000609757.5:c.15-8A>T	ENSP00000477093.1:n.15-8A>T
NM_001165962.1:c.297-8A>T	NP_001159434.1:n.297-8A>T
NM_018127.6:c.297-8A>T	NP_060597.4:n.297-8A>T
NM_173717.1:c.297-8A>T	NP_776065.1:n.297-8A>T
XM_024450850.1:c.297-8A>T	XP_024306618.1:n.297-8A>T
XM_024450851.1:c.297-8A>T	XP_024306619.1:n.297-8A>T
XM_024450852.1:c.297-8A>T	XP_024306620.1:n.297-8A>T
XM_024450853.1:c.297-8A>T	XP_024306621.1:n.297-8A>T
XM_024450854.1:c.297-8A>T	XP_024306622.1:n.297-8A>T
XM_024450855.1:c.297-8A>T	XP_024306623.1:n.297-8A>T
XM_024450856.1:c.15-8A>T	XP_024306624.1:n.15-8A>T
XM_024450857.1:c.15-8A>T	XP_024306625.1:n.15-8A>T
XM_024450858.1:c.15-8A>T	XP_024306626.1:n.15-8A>T
XM_024450859.1:c.15-8A>T	XP_024306627.1:n.15-8A>T
XM_024450860.1:c.15-8A>T	XP_024306628.1:n.15-8A>T
XM_024450861.1:c.15-8A>T	XP_024306629.1:n.15-8A>T
XM_024450862.1:c.15-8A>T	XP_024306630.1:n.15-8A>T
NM_018127.7:c.297-8A>T MANE Select	NP_060597.4:n.297-8A>T
NM_001165962.2:c.297-8A>T	NP_001159434.1:n.297-8A>T
NM_173717.2:c.297-8A>T	NP_776065.1:n.297-8A>T