Canonical Allele Identifier: CA414132486

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938086A>T (hg19) ; chrX:g.108694856A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694856A>T , CM000685.2:g.108694856A>T	GRCh38
NC_000023.10:g.107938086A>T , CM000685.1:g.107938086A>T	GRCh37
NC_000023.9:g.107824742A>T	NCBI36
NG_011977.1:g.259933A>T
NG_011977.2:g.259933A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4756A>T MANE Select	ENSP00000331902.7:p.Thr1586Ser
ENST00000361603.7:c.4738A>T	ENSP00000354505.2:p.Thr1580Ser
ENST00000510690.2:n.1250A>T
ENST00000644079.1:n.1242A>T
ENST00000328300.10:c.4756A>T	ENSP00000331902.6:p.Thr1586Ser
ENST00000361603.6:c.4738A>T	ENSP00000354505.2:p.Thr1580Ser
ENST00000504541.1:c.154A>T	ENSP00000424845.1:p.Thr52Ser
ENST00000515658.1:c.325-1441A>T
NM_000495.4:c.4738A>T	NP_000486.1:p.Thr1580Ser
NM_033380.2:c.4756A>T	NP_203699.1:p.Thr1586Ser
XM_005262070.2:c.4747A>T	XP_005262127.1:p.Thr1583Ser
XM_006724616.2:c.4756A>T	XP_006724679.1:p.Thr1586Ser
XM_011530849.1:c.4432A>T	XP_011529151.1:p.Thr1478Ser
XM_011530851.1:c.2329A>T	XP_011529153.1:p.Thr777Ser
XM_011530849.2:c.4771A>T	XP_011529151.2:p.Thr1591Ser
XM_017029259.2:c.4762A>T	XP_016884748.1:p.Thr1588Ser
XM_017029260.1:c.4753A>T	XP_016884749.1:p.Thr1585Ser
XM_017029263.2:c.3091A>T	XP_016884752.1:p.Thr1031Ser
NM_000495.5:c.4738A>T	NP_000486.1:p.Thr1580Ser
NM_033380.3:c.4756A>T MANE Select	NP_203699.1:p.Thr1586Ser