Canonical Allele Identifier: CA8772468
Community Standard Title: NM_199242.3(UNC13D):c.2554-13A>G
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75831182T>C , CM000679.2:g.75831182T>C GRCh38
NC_000017.10:g.73827263T>C , CM000679.1:g.73827263T>C GRCh37
NC_000017.9:g.71338858T>C NCBI36
NG_007266.1:g.18536A>G , LRG_122:g.18536A>G

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2554-13A>G MANE Select NP_954712.1:n.2554-13A>G
ENST00000207549.9:c.2554-13A>G MANE Select ENSP00000207549.3:n.2554-13A>G
NM_199242.2:c.2554-13A>G , LRG_122t1:c.2554-13A>G NP_954712.1:n.2554-13A>G
ENST00000207549.8:c.2554-13A>G ENSP00000207549.3:n.2554-13A>G
ENST00000412096.6:c.2554-13A>G ENSP00000388093.1:n.2554-13A>G
ENST00000699510.1:c.1420-13A>G ENSP00000514405.1:n.1420-13A>G
XM_011524504.1:c.2623-13A>G XP_011522806.1:n.2623-13A>G
XM_011524504.2:c.2623-13A>G XP_011522806.1:n.2623-13A>G
XM_011524505.1:c.2623-13A>G XP_011522807.1:n.2623-13A>G
XM_011524506.1:c.2620-13A>G XP_011522808.1:n.2620-13A>G
XM_011524507.1:c.2014-13A>G XP_011522809.1:n.2014-13A>G
XM_011524507.2:c.2014-13A>G XP_011522809.1:n.2014-13A>G
XM_011524508.1:c.2014-13A>G XP_011522810.1:n.2014-13A>G
XM_024450640.1:c.2014-13A>G XP_024306408.1:n.2014-13A>G