Canonical Allele Identifier: CA362695170

Gene: DSP

Linked Data

• MyVariant Identifiers: chr6:g.7585944T>C (hg19) ; chr6:g.7585711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585711T>C , CM000668.2:g.7585711T>C	GRCh38
NC_000006.11:g.7585944T>C , CM000668.1:g.7585944T>C	GRCh37
NC_000006.10:g.7530943T>C	NCBI36
NG_008803.1:g.49075T>C , LRG_423:g.49075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7120T>C	ENSP00000518230.1:p.Tyr2374His
ENST00000379802.8:c.8449T>C MANE Select	ENSP00000369129.3:p.Tyr2817His
ENST00000379802.7:c.8449T>C	ENSP00000369129.3:p.Tyr2817His
ENST00000418664.2:c.6652T>C	ENSP00000396591.2:p.Tyr2218His
NM_001008844.1:c.6652T>C	NP_001008844.1:p.Tyr2218His
NM_004415.2:c.8449T>C , LRG_423t1:c.8449T>C	NP_004406.2:p.Tyr2817His
XM_011514323.1:c.7120T>C	XP_011512625.1:p.Tyr2374His
NM_001008844.2:c.6652T>C	NP_001008844.1:p.Tyr2218His
NM_001319034.1:c.7120T>C	NP_001305963.1:p.Tyr2374His
NM_004415.3:c.8449T>C	NP_004406.2:p.Tyr2817His
NM_004415.4:c.8449T>C MANE Select	NP_004406.2:p.Tyr2817His
NM_001008844.3:c.6652T>C	NP_001008844.1:p.Tyr2218His
NM_001319034.2:c.7120T>C	NP_001305963.1:p.Tyr2374His