Canonical Allele Identifier: CA413851237
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620262T>C , CM000685.2:g.108620262T>C GRCh38
NC_000023.10:g.107863492T>C , CM000685.1:g.107863492T>C GRCh37
NC_000023.9:g.107750148T>C NCBI36
NG_011977.1:g.185339T>C
NG_011977.2:g.185339T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2513T>C MANE Select ENSP00000331902.7:p.Leu838Ser
ENST00000361603.7:c.2513T>C ENSP00000354505.2:p.Leu838Ser
ENST00000328300.10:c.2513T>C ENSP00000331902.6:p.Leu838Ser
ENST00000361603.6:c.2513T>C ENSP00000354505.2:p.Leu838Ser
ENST00000483338.1:n.1969T>C
NM_000495.4:c.2513T>C NP_000486.1:p.Leu838Ser
NM_033380.2:c.2513T>C NP_203699.1:p.Leu838Ser
XM_005262070.2:c.2513T>C XP_005262127.1:p.Leu838Ser
XM_005262072.3:c.2513T>C XP_005262129.1:p.Leu838Ser
XM_006724616.2:c.2513T>C XP_006724679.1:p.Leu838Ser
XM_011530849.1:c.2189T>C XP_011529151.1:p.Leu730Ser
XM_011530850.1:c.2513T>C XP_011529152.1:p.Leu838Ser
XM_011530851.1:c.86T>C XP_011529153.1:p.Leu29Ser
XM_011530849.2:c.2528T>C XP_011529151.2:p.Leu843Ser
XM_017029259.2:c.2528T>C XP_016884748.1:p.Leu843Ser
XM_017029260.1:c.2528T>C XP_016884749.1:p.Leu843Ser
XM_017029261.1:c.2528T>C XP_016884750.1:p.Leu843Ser
XM_017029262.2:c.2528T>C XP_016884751.1:p.Leu843Ser
XM_017029263.2:c.848T>C XP_016884752.1:p.Leu283Ser
NM_000495.5:c.2513T>C NP_000486.1:p.Leu838Ser
NM_033380.3:c.2513T>C MANE Select NP_203699.1:p.Leu838Ser