Canonical Allele Identifier: CA245489

Gene: EVC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5731609G>T , CM000666.2:g.5731609G>T	GRCh38
NC_000004.11:g.5733336G>T , CM000666.1:g.5733336G>T	GRCh37
NC_000004.10:g.5784237G>T	NCBI36
NG_008843.1:g.25413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.569G>T MANE Select	ENSP00000264956.6:p.Arg190Leu
ENST00000264956.10:c.569G>T	ENSP00000264956.6:p.Arg190Leu
ENST00000509451.1:c.569G>T	ENSP00000426774.1:p.Arg190Leu
NM_001306090.1:c.569G>T	NP_001293019.1:p.Arg190Leu
NM_001306092.1:c.569G>T	NP_001293021.1:p.Arg190Leu
NM_153717.2:c.569G>T	NP_714928.1:p.Arg190Leu
XM_006713865.2:c.569G>T	XP_006713928.1:p.Arg190Leu
XM_006713866.2:c.569G>T	XP_006713929.1:p.Arg190Leu
XM_011513419.1:c.569G>T	XP_011511721.1:p.Arg190Leu
XR_427473.2:n.759G>T
XR_427475.2:n.759G>T
XR_427476.2:n.759G>T
XR_924920.1:n.759G>T
XR_924921.1:n.759G>T
XR_924922.1:n.759G>T
XR_924923.1:n.759G>T
XR_924924.1:n.759G>T
XR_924925.1:n.759G>T
XR_924926.1:n.759G>T
XR_924927.1:n.759G>T
XR_924928.1:n.761G>T
XM_006713865.3:c.569G>T	XP_006713928.1:p.Arg190Leu
XM_006713866.3:c.569G>T	XP_006713929.1:p.Arg190Leu
XM_011513419.2:c.569G>T	XP_011511721.1:p.Arg190Leu
XM_017007883.2:c.569G>T	XP_016863372.1:p.Arg190Leu
XR_001741164.1:n.749G>T
XR_001741165.1:n.749G>T
XR_001741166.1:n.749G>T
XR_001741167.1:n.749G>T
XR_001741168.1:n.749G>T
XR_001741169.2:n.751G>T
XR_001741170.1:n.751G>T
XR_427473.3:n.749G>T
XR_427475.3:n.749G>T
XR_427476.3:n.749G>T
XR_924920.2:n.749G>T
XR_924921.2:n.749G>T
XR_924922.2:n.749G>T
XR_924924.2:n.749G>T
XR_924925.2:n.749G>T
XR_924926.2:n.749G>T
NM_153717.3:c.569G>T MANE Select	NP_714928.1:p.Arg190Leu
NM_001306090.2:c.569G>T	NP_001293019.1:p.Arg190Leu
NM_001306092.2:c.569G>T	NP_001293021.1:p.Arg190Leu