Canonical Allele Identifier: CA565105316
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1158894647
gnomAD v2: 6-7577091-T-A
gnomAD v3: 6-7576858-T-A
gnomAD v4: 6-7576858-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7576858T>A , CM000668.2:g.7576858T>A GRCh38
NC_000006.11:g.7577091T>A , CM000668.1:g.7577091T>A GRCh37
NC_000006.10:g.7522090T>A NCBI36
NG_008803.1:g.40222T>A , LRG_423:g.40222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.2794-101T>A ENSP00000518230.1:n.2794-101T>A
ENST00000379802.8:c.2794-101T>A MANE Select ENSP00000369129.3:n.2794-101T>A
ENST00000379802.7:c.2794-101T>A ENSP00000369129.3:n.2794-101T>A
ENST00000418664.2:c.2794-101T>A ENSP00000396591.2:n.2794-101T>A
NM_001008844.1:c.2794-101T>A NP_001008844.1:n.2794-101T>A
NM_004415.2:c.2794-101T>A , LRG_423t1:c.2794-101T>A NP_004406.2:n.2794-101T>A
XM_011514323.1:c.2794-101T>A XP_011512625.1:n.2794-101T>A
NM_001008844.2:c.2794-101T>A NP_001008844.1:n.2794-101T>A
NM_001319034.1:c.2794-101T>A NP_001305963.1:n.2794-101T>A
NM_004415.3:c.2794-101T>A NP_004406.2:n.2794-101T>A
NM_004415.4:c.2794-101T>A MANE Select NP_004406.2:n.2794-101T>A
NM_001008844.3:c.2794-101T>A NP_001008844.1:n.2794-101T>A
NM_001319034.2:c.2794-101T>A NP_001305963.1:n.2794-101T>A