Canonical Allele Identifier: CA133963146
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs528855715
gnomAD v2: 6-7575432-G-T
gnomAD v3: 6-7575199-G-T
gnomAD v4: 6-7575199-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575199G>T , CM000668.2:g.7575199G>T GRCh38
NC_000006.11:g.7575432G>T , CM000668.1:g.7575432G>T GRCh37
NC_000006.10:g.7520431G>T NCBI36
NG_008803.1:g.38563G>T , LRG_423:g.38563G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.2437-96G>T ENSP00000518230.1:n.2437-96G>T
ENST00000684395.1:n.1078-96G>T
ENST00000379802.8:c.2437-96G>T MANE Select ENSP00000369129.3:n.2437-96G>T
ENST00000379802.7:c.2437-96G>T ENSP00000369129.3:n.2437-96G>T
ENST00000418664.2:c.2437-96G>T ENSP00000396591.2:n.2437-96G>T
NM_001008844.1:c.2437-96G>T NP_001008844.1:n.2437-96G>T
NM_004415.2:c.2437-96G>T , LRG_423t1:c.2437-96G>T NP_004406.2:n.2437-96G>T
XM_011514323.1:c.2437-96G>T XP_011512625.1:n.2437-96G>T
NM_001008844.2:c.2437-96G>T NP_001008844.1:n.2437-96G>T
NM_001319034.1:c.2437-96G>T NP_001305963.1:n.2437-96G>T
NM_004415.3:c.2437-96G>T NP_004406.2:n.2437-96G>T
NM_004415.4:c.2437-96G>T MANE Select NP_004406.2:n.2437-96G>T
NM_001008844.3:c.2437-96G>T NP_001008844.1:n.2437-96G>T
NM_001319034.2:c.2437-96G>T NP_001305963.1:n.2437-96G>T