Canonical Allele Identifier: CA2620811838
Gene: MVK HGNC NCBI
MMAB HGNC NCBI

Linked Data

gnomAD v4: 12-109573581-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109573581T>A , CM000674.2:g.109573581T>A GRCh38
NC_000012.11:g.110011386T>A , CM000674.1:g.110011386T>A GRCh37
NC_000012.10:g.108495769T>A NCBI36
NG_007096.1:g.4917A>T
NG_007702.1:g.4887T>A , LRG_156:g.4887T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546277.6:c.-15+10T>A (MVK) ENSP00000438153.2:n.-15+10T>A
ENST00000535044.1:n.231+10T>A (MVK)
ENST00000539335.5:c.-6+10T>A (MVK) ENSP00000440379.1:n.-6+10T>A
ENST00000545712.6:c.-101A>T (MMAB) ENSP00000445920.1:n.-101A>T
ENST00000546277.5:c.-15+10T>A (MVK) ENSP00000438153.1:n.-15+10T>A
XM_011538372.1:c.-15+10T>A (MVK) XP_011536674.1:n.-15+10T>A
XM_017019313.2:c.-15+10T>A (MVK) XP_016874802.1:n.-15+10T>A
XM_024448982.1:c.-15+10T>A (MVK) XP_024304750.1:n.-15+10T>A
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