Canonical Allele Identifier: CA413851104

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924121A>C (hg19) ; chrX:g.108680891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680891A>C , CM000685.2:g.108680891A>C	GRCh38
NC_000023.10:g.107924121A>C , CM000685.1:g.107924121A>C	GRCh37
NC_000023.9:g.107810777A>C	NCBI36
NG_011977.1:g.245968A>C
NG_011977.2:g.245968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4022A>C MANE Select	ENSP00000331902.7:p.Lys1341Thr
ENST00000361603.7:c.4004A>C	ENSP00000354505.2:p.Lys1335Thr
ENST00000510690.2:n.516A>C
ENST00000328300.10:c.4022A>C	ENSP00000331902.6:p.Lys1341Thr
ENST00000361603.6:c.4004A>C	ENSP00000354505.2:p.Lys1335Thr
ENST00000489230.1:n.425A>C
NM_000495.4:c.4004A>C	NP_000486.1:p.Lys1335Thr
NM_033380.2:c.4022A>C	NP_203699.1:p.Lys1341Thr
XM_005262070.2:c.4013A>C	XP_005262127.1:p.Lys1338Thr
XM_006724616.2:c.4022A>C	XP_006724679.1:p.Lys1341Thr
XM_011530849.1:c.3698A>C	XP_011529151.1:p.Lys1233Thr
XM_011530851.1:c.1595A>C	XP_011529153.1:p.Lys532Thr
XM_011530849.2:c.4037A>C	XP_011529151.2:p.Lys1346Thr
XM_017029259.2:c.4028A>C	XP_016884748.1:p.Lys1343Thr
XM_017029260.1:c.4019A>C	XP_016884749.1:p.Lys1340Thr
XM_017029263.2:c.2357A>C	XP_016884752.1:p.Lys786Thr
NM_000495.5:c.4004A>C	NP_000486.1:p.Lys1335Thr
NM_033380.3:c.4022A>C MANE Select	NP_203699.1:p.Lys1341Thr